GenomicLocus IndSigSNP chr bp snp DateAddedToCatalog PMID FirstAuth Date Journal Link Study Trait InitialN ReplicationN Region ReportedGene MappedGene UpGene DownGene SNP_Gene_ID UpGeneDist DownGeneDist Strongest SNPs marged SNP_ID_cur Context intergenic RiskAF P Pmlog Ptext OrBeta 95CI Platform CNV 2 rs4141741 1 43760236 rs7549876 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. White blood cell count approximately 444,000 European ancestry individuals NA 1p34.2 C1orf210 - TIE1 ENSG00000253313 ENSG00000066056 8948 6428 rs7549876-? rs7549876 0 7549876 regulatory_region_variant 1 NR 6E-9 8.221848749616356 NR [~ 8900000] (imputed) N 2 rs4141741 1 43765089 rs1209384 2018-11-16 30072576 Emilsson V 2018-08-02 Science www.ncbi.nlm.nih.gov/pubmed/30072576 Co-regulatory networks of human serum proteins link genetics to disease. Blood protein levels 3,200 European ancestry individuals NA 1p34.2 TIE1 C1orf210 - TIE1 ENSG00000253313 ENSG00000066056 13801 1575 rs1209384-G rs1209384 0 1209384 intergenic_variant 1 0.594 5E-16 15.301029995663981 (TIE1) 0.2 [0.15-0.25] unit increase Illumina [> 1000000] (imputed) N 2 rs4141741 1 43773033 rs2275180 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 1p34.2 TIE1 TIE1 ENSG00000066056 rs2275180-G rs2275180 0 2275180 intron_variant 0 0.623 5E-24 23.30102999566398 (Tyrosine-protein kinase receptor Tie-1, soluble, TIE1.2844.53.2) 0.25 [0.19-0.31] unit increase Affymetrix [10572788] (imputed) N 2 rs4141741 1 43856410 rs839755 2018-11-29 30224653 Evangelou E 2018-09-17 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30224653 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Systolic blood pressure 757,601 European ancestry individuals 249,262 European ancestry individuals 1p34.2 SZT2 SZT2 ENSG00000198198 rs839755-A rs839755 0 839755 intron_variant 0 0.6191 1E-19 19.0 0.2274 [0.18-0.28] mmHg decrease Affymetrix, Illumina [~ 7100000] (imputed) N 2 rs4141741 1 43926305 rs2782652 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Systolic blood pressure approximately 422,000 European ancestry individuals NA 1p34.2 HYI-AS1 - PTPRF ENSG00000229348 ENSG00000142949 3639 64553 rs2782652-? rs2782652 0 2782652 regulatory_region_variant 1 NR 7E-19 18.154901959985743 NR [~ 8900000] (imputed) N 3 rs12133923 1 153769400 rs9426935 2012-10-12 22903471 Hibar DP 2012-08-18 Brain Imaging Behav www.ncbi.nlm.nih.gov/pubmed/22903471 Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects. Lentiform nucleus volume 162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families NA 1q21.3 LOC343052 GATAD2B, GATAD2B, AL513523.2 ENSG00000261992, ENSG00000143614, ENSG00000231827 rs9426935-C rs9426935 0 9426935 intron_variant 0 0.49 5E-6 5.301029995663981 96.63 [NR] unit decrease Illumina [2380200] (imputed) N 3 rs12133923 1 153827552 rs7554469 2017-03-17 27089181 Okbay A 2016-04-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27089181 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. Life satisfaction 166,205 European ancestry individuals NA 1q21.3 NR GATAD2B, GATAD2B ENSG00000261992, ENSG00000143614 rs7554469-A rs7554469 0 7554469 intron_variant 0 0.4889 3E-9 8.522878745280337 0.0218 [0.015-0.029] unit increase Affymetrix, Illumina, Perlegen [at least 5170349] (imputed) N 3 rs12133923 1 153848996 rs7414227 2012-10-12 22903471 Hibar DP 2012-08-18 Brain Imaging Behav www.ncbi.nlm.nih.gov/pubmed/22903471 Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects. Lentiform nucleus volume 162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families NA 1q21.3 GATAD2B GATAD2B, GATAD2B ENSG00000261992, ENSG00000143614 rs7414227-G rs7414227 0 7414227 intron_variant 0 0.49 3E-6 5.522878745280337 99.5 [NR] unit decrease Illumina [2380200] (imputed) N 3 rs12133923 1 153913770 rs2252508 2012-10-12 22903471 Hibar DP 2012-08-18 Brain Imaging Behav www.ncbi.nlm.nih.gov/pubmed/22903471 Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects. Lentiform nucleus volume 162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families NA 1q21.3 DENND4B DENND4B ENSG00000198837 rs2252508-G rs2252508 0 2252508 splice_region_variant 0 0.47 5E-6 5.301029995663981 97.78 [NR] unit decrease Illumina [2380200] (imputed) N 3 rs12133923 1 153939130 rs11264736 2012-10-12 22903471 Hibar DP 2012-08-18 Brain Imaging Behav www.ncbi.nlm.nih.gov/pubmed/22903471 Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects. Lentiform nucleus volume 162 European ancestry Alzheimer's disease cases, 346 European ancestry mild cognitive impairment cases, 198 European ancestry controls, 639 European ancestry individuals from 364 families NA 1q21.3 SLC39A1 SLC39A1, AL358472.7, AL358472.3 ENSG00000143570, ENSG00000285779, ENSG00000273026 rs11264736-T rs11264736 0 11264736 non_coding_transcript_exon_variant 0 0.47 4E-6 5.3979400086720375 98.69 [NR] unit decrease Illumina [2380200] (imputed) N 3 rs12133923 1 153942597 rs4845586 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 1q21.3 CREB3L4 AL358472.7, CREB3L4 ENSG00000285779, ENSG00000143578 rs4845586-G rs4845586 0 4845586 intron_variant 0 0.47 7E-25 24.154901959985743 (Cyclic AMP-responsive element-binding protein 3-like protein 4, CREB3L4.11308.8.3) 0.26 [0.22-0.3] unit increase Affymetrix [10572788] (imputed) N 3 rs12133923 1 153966660 rs4845360 2018-11-16 30072576 Emilsson V 2018-08-02 Science www.ncbi.nlm.nih.gov/pubmed/30072576 Co-regulatory networks of human serum proteins link genetics to disease. Blood protein levels 3,200 European ancestry individuals NA 1q21.3 CREB3L4 NUP210L ENSG00000143552 rs4845360-G rs4845360 0 4845360 intron_variant 0 0.453 2E-30 29.69897000433602 (CREB3L4) 0.276 [0.23-0.32] unit increase Illumina [> 1000000] (imputed) N 4 rs2365715 1 156615114 rs2365715 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 1q23.1 NR BCAN ENSG00000132692 rs2365715-G rs2365715 0 2365715 intron_variant 0 0.396 4E-13 12.397940008672037 (Brevican core protein, BCAN.3461.58.1) 0.2 [0.14-0.26] unit decrease Affymetrix [10572788] (imputed) N 5 rs6665134 1 180952294 rs57113693 2018-10-17 30089514 Chen JA 2018-08-08 Mol Neurodegener www.ncbi.nlm.nih.gov/pubmed/30089514 Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. Progressive supranuclear palsy 1,646 European ancestry cases, 10,662 European ancestry controls NA 1q25.3 STX6 STX6 ENSG00000135823 rs57113693-? rs57113693 0 57113693 intron_variant 0 9E-16 15.045757490560675 Illumina [6419662] (imputed) N 5 rs6665134 1 180961245 rs11586493 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Age at menopause approximately 143,000 European ancestry individuals NA 1q25.3 STX6 ENSG00000135823 rs11586493-? rs11586493 0 11586493 intron_variant 0 NR 1E-12 12.0 NR [~ 8900000] (imputed) N 5 rs6665134 1 180962282 rs1411478 2011-07-14 21685912 Hoglinger GU 2011-06-19 Nat Genet www.ncbi.nlm.nih.gov/pubmed/21685912 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Progressive supranuclear palsy 1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls 1,051 European ancestry cases, 3,560 European ancestry controls 1q25.3 STX6 STX6 ENSG00000135823 rs1411478-? rs1411478 0 1411478 intron_variant 0 0.58 4E-11 10.397940008672037 1.27 [1.19-1.37] Illumina [531451] N 5 rs6665134 1 180962282 rs1411478 2018-02-21 26414677 Day FR 2015-11-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26414677 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Menopause (age at onset) up to 69,626 European ancestry women NA 1q25.3 STX6 STX6 ENSG00000135823 rs1411478-A rs1411478 0 1411478 intron_variant 0 0.41 1E-10 10.0 0.13 [0.091-0.169] years decrease Affymetrix, Illumina [~ 2600000] (imputed) N 7 rs62158161 2 114082175 rs62158170 2018-11-29 30224653 Evangelou E 2018-09-17 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30224653 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Diastolic blood pressure 757,601 European ancestry individuals NA 2q14.1 PAX8 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 45677 81798 rs62158170-A rs62158170 0 62158170 regulatory_region_variant 1 0.7834 7E-15 14.154901959985743 0.1645 [0.12-0.21] mmHg increase Affymetrix, Illumina [~ 7100000] (imputed) N 7 rs62158161 2 114082175 rs62158170 2019-01-18 30531941 Doherty A 2018-12-10 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30531941 GWAS identifies 14 loci for device-measured physical activity and sleep duration. Sleep duration 91,105 European ancestry individuals NA 2q14.1 PAX8-AS1 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 45677 81798 rs62158170-A rs62158170 0 62158170 regulatory_region_variant 1 0.783 6E-20 19.221848749616356 0.051 [0.039-0.063] SD units decrease NR [9926106] (imputed) N 7 rs62158161 2 114082175 rs62158170 2019-03-25 30804566 Lane JM 2019-02-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30804566 Biological and clinical insights from genetics of insomnia symptoms. Insomnia symptoms (never/rarely vs. sometimes/usually) 345,022 European ancestry cases, 108,357 European ancestry controls 17,140 European ancestry cases, 61,850 European ancestry controls 2q14.1 PAX8/LOC100130100 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 45677 81798 rs62158170-A rs62158170 0 62158170 regulatory_region_variant 1 0.783643 1E-16 16.0 1.05 [1.03-1.06] Affymetrix [14661600] (imputed) N 7 rs62158161 2 114082175 rs62158170 2019-03-25 30804566 Lane JM 2019-02-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30804566 Biological and clinical insights from genetics of insomnia symptoms. Insomnia symptoms (never/rarely vs. usually) 129,270 European ancestry cases, 108,357 European ancestry controls 17,140 European ancestry cases, 61,850 European ancestry controls 2q14.1 PAX8/LOC100130100 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 45677 81798 rs62158170-A rs62158170 0 62158170 regulatory_region_variant 1 0.783643 8E-13 12.096910013008056 1.05 [1.03-1.06] Affymetrix [14661600] (imputed) N 7 rs62158161 2 114083120 rs6737318 2019-04-12 30846698 Dashti HS 2019-03-07 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30846698 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. Sleep duration (long sleep) 34,184 European ancestry cases, 305,742 European ancestry controls 47,180 adults, 10,554 children or adolescents 2q14.1 PAX8, LOC100130100 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 46622 80853 rs6737318-G rs6737318 0 6737318 regulatory_region_variant 1 NR 3E-13 12.522878745280337 1.079 Affymetrix [14661600] (imputed) N 7 rs62158161 2 114085785 rs7556815 2019-01-18 30531941 Doherty A 2018-12-10 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30531941 GWAS identifies 14 loci for device-measured physical activity and sleep duration. Sleep duration 91,105 European ancestry individuals NA 2q14.1 PAX8-AS1 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 49287 78188 rs7556815-G rs7556815 0 7556815 intergenic_variant 1 0.778896 2E-18 17.69897000433602 0.048654024 [0.038-0.06] SD units decrease NR [9926106] (imputed) N 7 rs62158161 2 114085785 rs7556815 2019-04-12 30846698 Dashti HS 2019-03-07 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30846698 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. Sleep duration 446,118 European ancestry individuals 47,180 adults, 10,554 children or adolescents 2q14.1 NR PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 49287 78188 rs7556815-A rs7556815 0 7556815 intergenic_variant 1 NR 2E-54 53.69897000433602 2.352 unit increase Affymetrix [14661600] (imputed) N 7 rs62158161 2 114089551 rs2863957 2019-04-12 30846698 Dashti HS 2019-03-07 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30846698 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. Sleep duration (short sleep) 106,192 European ancestry cases, 305,742 European ancestry controls 47,180 adults, 10,554 children or adolescents 2q14.1 PAX8, LOC100130100 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 53053 74422 rs2863957-C rs2863957 0 2863957 intergenic_variant 1 NR 3E-18 17.522878745280337 1.056 NR [14661600] (imputed) N 7 rs62158161 2 114090412 rs1823125 2015-08-14 25469926 Gottlieb DJ 2014-12-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/25469926 Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study. Sleep duration 47,180 European ancestry individuals 4,771 African American individuals 2q14.1 PAX8, LOC101927400, CBWD2 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 53885 73561 rs1823125-G rs1823125 0 1823125 intergenic_variant 1 0.26 1E-10 10.0 3.14 [NR] unit increase Affymetrix, Illumina [2033301] N 7 rs62158161 2 114106139 rs62158211 2017-03-30 27494321 Jones SE 2016-08-05 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/27494321 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. Sleep duration 127,573 British individuals 47,180 individuals 2q14.1 PAX8 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 69612 57834 rs62158211-G rs62158211 0 62158211 intergenic_variant 1 0.79 2E-23 22.69897000433602 0.039 [0.029-0.049] hour decrease NR [16761225] (imputed) N 7 rs62158161 2 114106139 rs62158211 2017-03-30 27494321 Jones SE 2016-08-05 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/27494321 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci. Sleep duration (oversleepers vs undersleepers) 10,102 British oversleeper individuals, 28,980 British undersleeper indivdiuals NA 2q14.1 PAX8 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 69612 57834 rs62158211-T rs62158211 0 62158211 intergenic_variant 1 0.21 1E-7 7.0 1.0638298 [1.04-1.09] NR [16761225] (imputed) N 7 rs62158161 2 114106139 rs62158211 2017-05-11 27992416 Lane JM 2016-12-19 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27992416 Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. Sleep duration 111,975 European ancestry individuals NA 2q14.1 PAX8 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 69612 57834 rs62158211-T rs62158211 0 62158211 intergenic_variant 1 0.213 5E-14 13.301029995663981 0.039 [0.029-0.049] hours increase Affymetrix [up to 73355677] (imputed) N 7 rs62158161 2 114106139 rs62158211 2017-05-11 27992416 Lane JM 2016-12-19 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27992416 Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. Sleep traits (multi-trait analysis) At least 112,586 European ancestry individuals NA 2q14.1 PAX8 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 69612 57834 rs62158211-? rs62158211 0 62158211 intergenic_variant 1 0.214 8E-13 12.096910013008056 Affymetrix [up to 73355677] (imputed) N 7 rs62158161 2 114106139 rs62158211 2017-09-11 28604731 Hammerschlag AR 2017-06-12 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28604731 Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits. Sleep duration 112,411 European ancestry male individuals NA 2q14.1 NR PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 69612 57834 rs62158211-T rs62158211 0 62158211 intergenic_variant 1 0.21 1E-12 12.0 0.037 [0.027-0.047] unit increase Affymetrix [at least 12428592] (imputed) N 7 rs62158161 2 114106139 rs62158211 2019-01-18 30531941 Doherty A 2018-12-10 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30531941 GWAS identifies 14 loci for device-measured physical activity and sleep duration. Sleep duration 91,105 European ancestry individuals NA 2q14.1 CHCHD5 PAX8 - IGKV1OR2-108 ENSG00000125618 ENSG00000231292 69612 57834 rs62158211-G rs62158211 0 62158211 intergenic_variant 1 0.785189 6E-17 16.221848749616356 0.046838697 [0.036-0.058] SD units decrease NR [9926106] (imputed) N 8 rs151052089 2 190649316 rs5742933 2015-05-07 25162662 Liao M 2014-08-27 PLoS One www.ncbi.nlm.nih.gov/pubmed/25162662 Genome-wide association study identifies variants in PMS1 associated with serum ferritin in a Chinese population. Ferritin levels 1,999 Han Chinese ancestry individuals 1,496 Chinese ancestry individuals 2q32.2 OSGEPL1, ORMDL1, ANKAR, PMS1 PMS1 ENSG00000064933 rs5742933-? rs5742933 0 5742933 5_prime_UTR_variant 0 NR 2E-10 9.698970004336019 0.11 [0.07-0.14] unit decrease Illumina [1940243] (imputed) N 8 rs151052089 2 190697339 rs5743077 2017-08-21 28334935 Raffield LM 2017-05-15 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334935 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? Iron status biomarkers (ferritin levels) 12,375 Hispanic/Latino individuals NA 2q32.2 PMS1 PMS1 ENSG00000064933 rs5743077-G rs5743077 0 5743077 intron_variant 0 NR 2E-7 6.698970004336019 0.037 [0.023-0.051] unit increase Illumina [27700000] (imputed) N 8 rs151052089 2 190771945 rs62184315 2015-02-06 24962325 Kapoor M 2014-06-11 Drug Alcohol Depend www.ncbi.nlm.nih.gov/pubmed/24962325 Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. Alcohol dependence (age at onset) 685 European ancestry cases, 1,103 European ancestry controls from 118 families NA 2q32.2 NR C2orf88 ENSG00000187699 rs62184315-T rs62184315 0 62184315 intron_variant 0 0.84 4E-6 5.3979400086720375 1.47 [1.31-1.63] Illumina [4058415] (imputed) N 12 rs2279829 3 147106319 rs2279829 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Number of sexual partners 370,711 European ancestry individuals NA 3q24 ZIC4 ZIC4 ENSG00000174963 rs2279829-T rs2279829 0 2279829 3_prime_UTR_variant 0 0.215 1E-13 13.0 0.021306567 [0.016-0.027] unit decrease Affymetrix [11515109] (imputed) N 12 rs2279829 3 147106319 rs2279829 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Risk-taking tendency (4-domain principal component model) 315,894 European ancestry individuals NA 3q24 ZIC4 ZIC4 ENSG00000174963 rs2279829-T rs2279829 0 2279829 3_prime_UTR_variant 0 0.2149 6E-9 8.221848749616356 0.018225709 [0.012-0.024] unit decrease Affymetrix [~ 11515000] (imputed) N 12 rs2279829 3 147106319 rs2279829 2019-03-28 30643251 Liu M 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643251 Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Alcohol consumption (drinks per week) (MTAG) up to 1,039,210 European ancestry individuals NA 3q24 NR ZIC4 ENSG00000174963 rs2279829-T rs2279829 0 2279829 3_prime_UTR_variant 0 0.215 1E-8 8.0 0.00918408 [0.006-0.0123] unit decrease NR [~ 9732723] (imputed) N 12 rs2279829 3 147106319 rs2279829 2019-03-28 30643251 Liu M 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643251 Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Smoking initiation (ever regular vs never regular) up to 1,232,091 European ancestry individuals NA 3q24 NR ZIC4 ENSG00000174963 rs2279829-T rs2279829 0 2279829 3_prime_UTR_variant 0 0.216 2E-8 7.698970004336019 0.017376566 [0.011-0.023] unit decrease NR [~ 10000000] (imputed) N 12 rs2279829 3 147106319 rs2279829 2019-03-28 30643251 Liu M 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643251 Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Smoking initiation (ever regular vs never regular) (MTAG) up to 1,359,002 European ancestry individuals NA 3q24 NR ZIC4 ENSG00000174963 rs2279829-T rs2279829 0 2279829 3_prime_UTR_variant 0 0.216 1E-11 11.0 0.00884693 [0.0063-0.0114] unit decrease NR [9732723] (imputed) N 13 rs150434736 3 190620146 rs34113929 2019-02-14 30258056 Vojinovic D 2018-09-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30258056 Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. Lateral ventricular volume in normal aging 22,045 European ancestry individuals, 1,488 African American individuals NA 3q28 SNAR-I, OSTN GMNC - OSTN ENSG00000205835 ENSG00000188729 9928 296884 rs34113929-A rs34113929 0 34113929 intergenic_variant 1 0.41 1E-16 16.0 8.27 z score decrease Affymetrix, Illumina [NR] (imputed) N 13 rs150434736 3 190663557 rs35055419 2017-05-23 28247064 Deming Y 2017-02-28 Acta Neuropathol www.ncbi.nlm.nih.gov/pubmed/28247064 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. Cerebrospinal T-tau levels 3,146 individuals NA 3q28 GMNC, SNAR-I, OSTN GMNC - OSTN ENSG00000205835 ENSG00000188729 53339 253473 rs35055419-C rs35055419 0 35055419 intergenic_variant 1 0.357 3E-11 10.522878745280337 0.04 [0.028-0.052] unit increase Illumina [7358575] (imputed) N 13 rs150434736 3 190669518 rs9877502 2013-09-27 23562540 Cruchaga C 2013-04-04 Neuron www.ncbi.nlm.nih.gov/pubmed/23562540 GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Alzheimer's disease biomarkers 591 European ancestry cases, 687 European ancestry controls 3q28 UTS2D, SNAR-I, GEMC1, OSTNIL1-RAP, CCDC50 GMNC - OSTN ENSG00000205835 ENSG00000188729 59300 247512 rs9877502-A rs9877502 0 9877502 intergenic_variant 1 NR 5E-9 8.301029995663981 (tau) 0.052 [NR] unit increase Illumina [5815690] (imputed) N 14 rs13107325 4 103001649 rs1813006 2018-02-23 29326435 Hill WD 2018-01-11 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/29326435 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. Intelligence (MTAG) 120,934 British ancestry individuals, 127,548 individuals NA 4q24 BANK1 BANK1 - SLC39A8 ENSG00000153064 ENSG00000138821 5680 170549 rs1813006-T rs1813006 0 1813006 intergenic_variant 1 NR 2E-13 12.698970004336019 0.0474077 [0.035-0.06] unit decrease Affymetrix [NR] N 14 rs13107325 4 103146888 rs35225200 2017-08-16 28540026 Anney RJL 2017-05-22 Mol Autism www.ncbi.nlm.nih.gov/pubmed/28540026 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Autism spectrum disorder or schizophrenia schizophrenia cases and controls (see Ripke, 2014), up to 6,197 European ancestry ASD cases, up to 7,377 European ancestry controls, up to 1,190 ASD cases, up to 1,190 controls NA 4q24 BANK1, SLC39A8 BANK1 - SLC39A8 ENSG00000153064 ENSG00000138821 150919 25310 rs35225200-? rs35225200 0 35225200 intergenic_variant 1 2E-12 11.698970004336019 1.1363636 [1.1-1.18] Affymetrix, Illumina [NR] N 14 rs13107325 4 103146888 rs35225200 2018-08-29 29912962 Feitosa MF 2018-06-18 PLoS One www.ncbi.nlm.nih.gov/pubmed/29912962 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. Mean arterial pressure x alcohol consumption interaction (2df test) 91,110 European ancestry drinkers and non-drinkers, 21,416 African American or Afro-Caribbean drinkers and non-drinkers, 12,365 Asian ancestry drinkers and non-drinkers, 8,470 Hispanic or Latin American drinkers and non-drinkers 237,996 European ancestry drinkers, 2,280 African American drinkers, 54,080 Asian ancestry drinkers, 6,448 Hispanic drinkers, 43,315 European ancestry non-drinkers, 2,761 African ancestry non-drinkers, 86,943 Asian ancestry non-drinkers, 6,923 Hispanic non-drinkers 4q24 SLC39A8 BANK1 - SLC39A8 ENSG00000153064 ENSG00000138821 150919 25310 rs35225200-A rs35225200 0 35225200 intergenic_variant 1 0.93 1E-12 12.0 (AA, EA) Affymetrix, Illumina [up to 39321347] (imputed) N 14 rs13107325 4 103146890 rs35518360 2015-04-16 25056061 Ripke S 2014-07-22 Nature www.ncbi.nlm.nih.gov/pubmed/25056061 Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia 32,405 European ancestry cases, 42,221 European ancestry controls, 1,235 European ancestry cases and 1,235 European ancestry controls from 1235 parent-offspring trios, 1,836 East Asian ancestry cases, 3,383 East Asian ancestry controls 1,513 European ancestry cases, 66,236 European ancestry controls 4q24 SLC39A8 BANK1 - SLC39A8 ENSG00000153064 ENSG00000138821 150921 25308 rs35518360-T rs35518360 0 35518360 intergenic_variant 1 0.078 8E-15 14.096910013008056 1.166861 [1.12-1.21] Affymetrix, Illumina [9005918] (imputed) N 14 rs13107325 4 103188709 rs13107325 2010-11-17 20935630 Speliotes EK 2010-10-10 Nat Genet www.ncbi.nlm.nih.gov/pubmed/20935630 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Body mass index Up to 123,865 European ancestry individuals Up to 125,931 European ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 2E-13 12.698970004336019 0.19 [0.11-0.27] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2800000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2011-10-11 21909110 Wain LV 2011-09-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/21909110 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Blood pressure 74,064 European ancestry individuals 48,607 European ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.12 1E-10 10.0 (Mean Arterial Pressure) 0.633 [0.44-0.82] mmHg decrease Affymetrix, Illumina, Perlegen [NR] (imputed) N 14 rs13107325 4 103188709 rs13107325 2011-10-21 21909115 Ehret GB 2011-09-11 Nature www.ncbi.nlm.nih.gov/pubmed/21909115 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Diastolic blood pressure 69,395 European ancestry individuals Up to 133,361 European ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.05 2E-17 16.69897000433602 0.684 [NR] mmHg decrease Affymetrix, Illumina [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2011-10-21 21909115 Ehret GB 2011-09-11 Nature www.ncbi.nlm.nih.gov/pubmed/21909115 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Hypertension 69,395 European ancestry individuals Up to 133,361 European ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.05 5E-7 6.301029995663981 0.105 [NR] unit decrease Affymetrix, Illumina [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2011-10-21 21909115 Ehret GB 2011-09-11 Nature www.ncbi.nlm.nih.gov/pubmed/21909115 Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Systolic blood pressure 69,395 European ancestry individuals Up to 133,361 European ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.05 3E-14 13.522878745280337 0.981 [NR] mmHg decrease Affymetrix, Illumina [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2012-01-25 20686565 Teslovich TM 2010-08-05 Nature www.ncbi.nlm.nih.gov/pubmed/20686565 Biological, clinical and population relevance of 95 loci for blood lipids. HDL cholesterol 99,900 European ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 7E-11 10.154901959985743 0.84 [0.53-1.15] mg/dL decrease Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2014-05-12 24097068 Willer CJ 2013-10-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24097068 Discovery and refinement of loci associated with lipid levels. HDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.08 1E-15 15.0 0.071 [NR] unit decrease NR [NR] (imputed) N 14 rs13107325 4 103188709 rs13107325 2016-01-27 25673413 Locke AE 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673413 Genetic studies of body mass index yield new insights for obesity biology. Body mass index up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychellois male individuals, 287 Seychellois female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.071 3E-7 6.522878745280337 (EA, women) 0.045 [0.028-0.062] kg/m2 increase Affymetrix, Illumina [2550021] N 14 rs13107325 4 103188709 rs13107325 2016-01-27 25673413 Locke AE 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673413 Genetic studies of body mass index yield new insights for obesity biology. Body mass index up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychellois male individuals, 287 Seychellois female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.072 1E-12 12.0 0.047 [0.034-0.06] kg/m2 increase Affymetrix, Illumina [2550021] N 14 rs13107325 4 103188709 rs13107325 2016-01-27 25673413 Locke AE 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673413 Genetic studies of body mass index yield new insights for obesity biology. Body mass index up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychellois male individuals, 287 Seychellois female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.072 2E-12 11.698970004336019 (EA) 0.048 [0.034-0.061] kg/m2 increase Affymetrix, Illumina [2550021] N 14 rs13107325 4 103188709 rs13107325 2016-01-27 25673413 Locke AE 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673413 Genetic studies of body mass index yield new insights for obesity biology. Body mass index up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychellois male individuals, 287 Seychellois female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.074 3E-9 8.522878745280337 (EA, men) 0.053 [0.035-0.07] kg/m2 increase Affymetrix, Illumina [2550021] N 14 rs13107325 4 103188709 rs13107325 2016-07-23 26198764 Goes FS 2015-07-21 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/26198764 Genome-wide association study of schizophrenia in Ashkenazi Jews. Schizophrenia 592 Ashkenazi Jewish ancestry cases, 505 Ashkenazi Jewish ancestry controls, 36,989 cases, 113,075 controls NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 NR 2E-12 11.698970004336019 1.16 [NR] Illumina [7158791] (imputed) N 14 rs13107325 4 103188709 rs13107325 2016-09-28 26604143 Felix JF 2015-11-24 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/26604143 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Childhood body mass index 34,744 European ancestry children 11,313 European ancestry children 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 NR 1E-8 8.0 Affymetrix, Illumina [2499691] (imputed) N 14 rs13107325 4 103188709 rs13107325 2016-09-28 26604143 Felix JF 2015-11-24 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/26604143 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. Childhood body mass index 34,744 European ancestry children 11,313 European ancestry children 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 4E-7 6.3979400086720375 0.081 [0.05-0.112] unit increase Affymetrix, Illumina [2499691] (imputed) N 14 rs13107325 4 103188709 rs13107325 2016-11-09 26908625 Johansson A 2016-01-21 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/26908625 Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome. NT-proBNP levels in acute coronary syndrome at least 3,691 European ancestry individuals, up to 29 Asian ancestry individuals, 20 African ancestry individuals at least 5,404 European ancestry individuals, up to 54 Asian ancestry individuals, 33 African ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.078 6E-10 9.221848749616356 0.216 [0.15-0.28] ng/L increase Illumina [10962468] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. BMI (adjusted for smoking behaviour) 98,173 European ancestry women, 64,373 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/Latino ancestry women, 1,764 Hispanic/Latino ancestry men 21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0737 3E-10 9.522878745280337 0.0469 [0.032-0.062] kg/m2 increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. BMI (adjusted for smoking behaviour) 98,173 European ancestry women, 64,373 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/Latino ancestry women, 1,764 Hispanic/Latino ancestry men 21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0737 4E-9 8.397940008672037 (men) 0.0607 [0.041-0.081] kg/m2 increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. BMI in non-smokers 77,279 European ancestry women, 47,280 European ancestry men, 4,856 European ancestry individuals, 8,799 African American/Afro-Caribbean ancestry women, 1,803 African American/Afro-Caribbean ancestry men, 1,020 Indian Asian ancestry women, 6,691 Indian Asian ancestry men, 1,526 Filipino ancestry women, 2,469 Hispanic/Latino ancestry women, 1,318 Hispanic/Latino ancestry men 16,011 European ancestry women, 17,912 European ancestry men, 105,218 European ancestry individuals, 2,073 African American/Afro-Caribbean ancestry women, 647 African American/Afro-Caribbean ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0737 1E-7 7.0 0.0449 [0.028-0.062] kg/m2 increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. BMI in non-smokers 77,279 European ancestry women, 47,280 European ancestry men, 4,856 European ancestry individuals, 8,799 African American/Afro-Caribbean ancestry women, 1,803 African American/Afro-Caribbean ancestry men, 1,020 Indian Asian ancestry women, 6,691 Indian Asian ancestry men, 1,526 Filipino ancestry women, 2,469 Hispanic/Latino ancestry women, 1,318 Hispanic/Latino ancestry men 16,011 European ancestry women, 17,912 European ancestry men, 105,218 European ancestry individuals, 2,073 African American/Afro-Caribbean ancestry women, 647 African American/Afro-Caribbean ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0737 7E-7 6.154901959985743 (men) 0.0574 [0.035-0.08] kg/m2 increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Body mass index (joint analysis main effects and smoking interaction) 98,173 European ancestry women, 64,373 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/Latino ancestry women, 1,764 Hispanic/Latino ancestry men 21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0737 1E-8 8.0 (men) Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Body mass index (joint analysis main effects and smoking interaction) 98,173 European ancestry women, 64,373 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/Latino ancestry women, 1,764 Hispanic/Latino ancestry men 21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0737 2E-10 9.698970004336019 Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index 2,518 African American women, 86,278 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 55,137 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0754 1E-9 9.0 (men) 0.0698 [0.047-0.092] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index 2,518 African American women, 86,278 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 55,137 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0754 3E-10 9.522878745280337 0.0488 [0.034-0.064] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index 2,518 African American women, 86,278 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 55,137 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0765 2E-10 9.698970004336019 (EA) 0.0505 [0.035-0.066] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index 2,518 African American women, 86,278 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 55,137 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0765 5E-10 9.301029995663981 (EA, men) 0.0741 [0.051-0.097] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index (joint analysis main effects and physical activity interaction) 2,518 African American women, 86,278 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 55,137 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 2E-10 9.698970004336019 (EA) Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index (joint analysis main effects and physical activity interaction) 2,518 African American women, 86,278 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 55,137 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 2E-8 7.698970004336019 (EA, men) Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index (joint analysis main effects and physical activity interaction) 2,518 African American women, 86,278 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 55,137 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 2E-9 8.698970004336019 (men) Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index (joint analysis main effects and physical activity interaction) 2,518 African American women, 86,278 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 55,137 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 8E-10 9.096910013008056 Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index in physically active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,609 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,399 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0754 4E-9 8.397940008672037 0.0508 [0.034-0.068] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index in physically active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,609 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,399 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0765 1E-9 9.0 (EA) 0.0531 [0.036-0.07] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index in physically active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,609 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,399 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0781 4E-7 6.3979400086720375 (men) 0.0661 [0.04-0.092] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Body mass index in physically active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,609 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,399 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0875 2E-6 5.698970004336019 (EA, men) 0.0868 [0.051-0.122] kg/m2 increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-09-22 28739976 Wain LV 2017-07-24 Hypertension www.ncbi.nlm.nih.gov/pubmed/28739976 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Diastolic blood pressure 150,134 European ancestry individuals 87,359 European ancestry individuals, 140,886 European and unknown ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.065 1E-13 13.0 (EA, initial) 0.686 [0.51-0.87] unit decrease Affymetrix, Illumina, Perlegen [7994604] (imputed) N 14 rs13107325 4 103188709 rs13107325 2017-09-22 28739976 Wain LV 2017-07-24 Hypertension www.ncbi.nlm.nih.gov/pubmed/28739976 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Systolic blood pressure 150,134 European ancestry individuals 87,359 European ancestry individuals, 140,886 European and unknown ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.065 6E-10 9.221848749616356 (EA, initial) 0.933 [0.64-1.23] unit decrease Affymetrix, Illumina, Perlegen [7994604] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-02-23 29326435 Hill WD 2018-01-11 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/29326435 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. Intelligence (MTAG) 120,934 British ancestry individuals, 127,548 individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 NR 3E-18 17.522878745280337 0.05044097 [0.039-0.062] unit decrease Affymetrix [NR] N 14 rs13107325 4 103188709 rs13107325 2018-07-02 29615537 Kulminski AM 2018-03-01 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/29615537 Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes. Diastolic blood pressure up to 33,431 European ancestry individuals NA 4q24 SLC39A8  SLC39A8 ENSG00000138821 rs13107325-A rs13107325 0 13107325 missense_variant 0 0.0818 9E-10 9.045757490560675 0.91369206 [0.62-1.21] unit decrease Affymetrix, Illumina [~ 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-07-09 29691431 Tikkanen E 2018-04-24 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29691431 Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank. Hand grip strength 223,215 British ancestry individuals 111,610 British ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.075 4E-23 22.397940008672037 0.006 [0.0048-0.0072] unit decrease Affymetrix [15275733] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-07-24 26426971 Winkler TW 2015-10-01 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/26426971 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Body mass index up to 309,889 European ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0725000653554868 4E-16 15.397940008672037 0.04919773 unit increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-07-30 27618447 Surendran P 2016-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27618447 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Systolic blood pressure up to 165,276 European ancestry individuals, up to 27,487 South Asian ancestry individuals up to 125,713 European ancestry individuals, up to 2,641 South Asian ancestry individuals, 4,632 Hispanic individuals, 22,077 African American individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0603 1E-7 7.0 0.042 unit decrease Illumina [242296] N 14 rs13107325 4 103188709 rs13107325 2018-08-29 29912962 Feitosa MF 2018-06-18 PLoS One www.ncbi.nlm.nih.gov/pubmed/29912962 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. Diastolic blood pressure x alcohol consumption interaction (2df test) 63,607 European ancestry drinkers, 10,193 African American or Afro-Caribbean drinkers, 2,441 Asian ancestry drinkers, 5,084 Hispanic or Latin American drinkers, 27,492 European ancestry non-drinkers, 11,223 African American or Afro-Caribbean non-drinkers, 9,924 Asian ancestry non-drinkers, 3,387 Hispanic or Latin American non-drinkers 238,058 European ancestry drinkers, 2,280 African American drinkers, 54,081 Asian ancestry drinkers, 6,448 Hispanic drinkers, 43,318 European ancestry non-drinkers, 2,761 African American non-drinkers, 86,943 Asian ancestry non-drinkers, 6,923 Hispanic non-drinkers 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 2E-23 22.69897000433602 (AA, EA) Affymetrix, Illumina [up to 39321347] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-08-29 29912962 Feitosa MF 2018-06-18 PLoS One www.ncbi.nlm.nih.gov/pubmed/29912962 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. Diastolic blood pressure x alcohol consumption interaction (2df test) 63,607 European ancestry drinkers, 10,193 African American or Afro-Caribbean drinkers, 2,441 Asian ancestry drinkers, 5,084 Hispanic or Latin American drinkers, 27,492 European ancestry non-drinkers, 11,223 African American or Afro-Caribbean non-drinkers, 9,924 Asian ancestry non-drinkers, 3,387 Hispanic or Latin American non-drinkers 238,058 European ancestry drinkers, 2,280 African American drinkers, 54,081 Asian ancestry drinkers, 6,448 Hispanic drinkers, 43,318 European ancestry non-drinkers, 2,761 African American non-drinkers, 86,943 Asian ancestry non-drinkers, 6,923 Hispanic non-drinkers 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 4E-22 21.397940008672037 (EA) Affymetrix, Illumina [up to 39321347] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-08-29 29912962 Feitosa MF 2018-06-18 PLoS One www.ncbi.nlm.nih.gov/pubmed/29912962 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. Mean arterial pressure x alcohol consumption interaction (2df test) 91,110 European ancestry drinkers and non-drinkers, 21,416 African American or Afro-Caribbean drinkers and non-drinkers, 12,365 Asian ancestry drinkers and non-drinkers, 8,470 Hispanic or Latin American drinkers and non-drinkers 237,996 European ancestry drinkers, 2,280 African American drinkers, 54,080 Asian ancestry drinkers, 6,448 Hispanic drinkers, 43,315 European ancestry non-drinkers, 2,761 African ancestry non-drinkers, 86,943 Asian ancestry non-drinkers, 6,923 Hispanic non-drinkers 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 4E-11 10.397940008672037 (EA) Affymetrix, Illumina [up to 39321347] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-09-07 27618448 Liu C 2016-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27618448 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. Mean arterial pressure 120,473 European ancestry individuals, 21,503 African American individuals, 4,586 Hispanic individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0627171181140933 1E-11 11.0 0.6347496 [0.45-0.82] unit decrease Illumina [247039] N 14 rs13107325 4 103188709 rs13107325 2018-09-12 29942086 Savage JE 2018-06-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29942086 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Intelligence 269,867 European ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 NR 2E-21 20.69897000433602 9.494 z-score decrease Affymetrix, Illumina [9295118] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-09-14 27618452 Ehret GB 2016-09-12 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27618452 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Diastolic blood pressure up to 201,529 European ancestry individuals up to 140,886 European ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 2E-14 13.698970004336019 0.602 [0.45-0.75] mm Hg decrease Affymetrix, Illumina, Perlegen [128272] N 14 rs13107325 4 103188709 rs13107325 2018-09-14 27618452 Ehret GB 2016-09-12 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27618452 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Systolic blood pressure up to 201,529 European ancestry individuals up to 140,886 European ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 5E-11 10.301029995663981 0.837 [0.59-1.09] mm Hg decrease Affymetrix, Illumina, Perlegen [128272] N 14 rs13107325 4 103188709 rs13107325 2018-09-17 29844566 Davies G 2018-05-29 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29844566 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. General cognitive ability up to 300,486 European ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 NR 8E-17 16.096910013008056 8.327 z-score decrease Affymetrix, Illumina [at least 2500000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-09-28 30108127 Hoffmann TJ 2018-08-14 Genetics www.ncbi.nlm.nih.gov/pubmed/30108127 A Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. Body mass index 315,347 European ancestry individuals, 8,322 Hispanic/Latino individuals, 7,290 East Asian ancestry individuals, 3,069 African American individuals, 459 South Asian ancestry individuals 431,743 European ancestry individuals, 9,275 South Asian ancestry individuals, 8,261 African British individuals, 1,822 East Asian ancestry individuals, 7,620 individuals 4q24 NR SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 NR 3E-21 20.522878745280337 0.051 [NR] unit decrease Affymetrix [at least 28613428] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-10-18 29912962 Feitosa MF 2018-06-18 PLoS One www.ncbi.nlm.nih.gov/pubmed/29912962 Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. Systolic blood pressure x alcohol consumption interaction (2df test) 63,608 European ancestry drinkers, 10,193 African American or Afro-Caribbean heavy drinkers, 2,441 Asian ancestry drinkers, 5,084 Hispanic or Latin American drinkers, 27,494 European ancestry non-drinkers, 11,224 African American or Afro-Caribbean non-drinkers, 9,924 Asian ancestry non-drinkers, 3,387 Hispanic or Latin American non-drinkers 238,002 European ancestry drinkers, 2,280 African American drinkers, 54,081 Asian ancestry drinkers, 6,452 Hispanic drinkers, 43,316 European ancestry non-drinkers, 2,761 African American non-drinkers, 86,945 Asian ancestry non-drinkers, 6,925 Hispanic non-drinkers 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.07 1E-15 15.0 (AA, EA) Affymetrix, Illumina [up to 39321347] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-10-19 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (years of education) up to 1,131,881 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0721 2E-18 17.69897000433602 0.0239 [0.019-0.029] unit decrease Affymetrix, Illumina [10000000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Cognitive performance 257,841 European ancestry individuals NA 4q24 Intergenic SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.075 1E-23 23.0 0.0543 [0.044-0.065] unit decrease Affymetrix, Illumina [10100000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Cognitive performance (MTAG) 402,382 European ancestry individuals NA 4q24 Intergenic SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.075 3E-18 17.522878745280337 (MTAG) 0.038 [0.029-0.047] unit decrease Affymetrix, Illumina [7100000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (MTAG) 1,311,438 European ancestry individuals NA 4q24 Intergenic SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0721 2E-24 23.69897000433602 (MTAG) 0.0259 [0.021-0.031] unit decrease Affymetrix, Illumina [7100000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Self-reported math ability 564,698 European ancestry individuals NA 4q24 Intergenic SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 0.9166 5E-10 9.301029995663981 0.0219 [0.015-0.029] unit decrease Affymetrix, Illumina [10000000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-11-26 30275531 Klarin D 2018-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30275531 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. HDL cholesterol 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals Up to 319,677 individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0765 2E-50 49.69897000433602 0.0798 [0.069-0.09] mg dl−1 decrease Affymetrix [up to 31400000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-12-14 30305740 Elliott LT 2018-10-10 Nature www.ncbi.nlm.nih.gov/pubmed/30305740 Genome-wide association studies of brain imaging phenotypes in UK Biobank. Brain imaging measurements 8,428 British ancestry individuals 4,386 European ancestry individuals 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.073861 1E-42 42.0 (Imaging-derived phenotype IDP_T1_FAST_ROIs_L_ventral_striatum) 0.33842 [0.29-0.39] unit increase NR [11734353] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-12-14 30305740 Elliott LT 2018-10-10 Nature www.ncbi.nlm.nih.gov/pubmed/30305740 Genome-wide association studies of brain imaging phenotypes in UK Biobank. Brain imaging measurements 8,428 British ancestry individuals 4,386 European ancestry individuals 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.073861 2E-39 38.69897000433602 (Imaging-derived phenotype IDP_T1_FAST_ROIs_R_putamen) 0.36694 [0.31-0.42] unit increase NR [11734353] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-12-14 30305740 Elliott LT 2018-10-10 Nature www.ncbi.nlm.nih.gov/pubmed/30305740 Genome-wide association studies of brain imaging phenotypes in UK Biobank. Brain imaging measurements 8,428 British ancestry individuals 4,386 European ancestry individuals 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.073861 2E-41 40.69897000433602 (Imaging-derived phenotype IDP_T1_FAST_ROIs_R_ventral_striatum) 0.33352 [0.29-0.38] unit increase NR [11734353] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-12-14 30305740 Elliott LT 2018-10-10 Nature www.ncbi.nlm.nih.gov/pubmed/30305740 Genome-wide association studies of brain imaging phenotypes in UK Biobank. Brain imaging measurements 8,428 British ancestry individuals 4,386 European ancestry individuals 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.073861 7E-39 38.15490195998574 (Imaging-derived phenotype IDP_T1_FAST_ROIs_L_putamen) 0.37008 [0.31-0.43] unit increase NR [11734353] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-12-14 30336701 Sanchez-Roige S 2018-10-19 Am J Psychiatry www.ncbi.nlm.nih.gov/pubmed/30336701 Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts. Alcohol use disorder (consumption score) 121,604 British ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 NR 3E-10 9.522878745280337 0.01 [0.0061-0.0139] unit decrease NR [16213998] N 14 rs13107325 4 103188709 rs13107325 2018-12-17 26961502 Wood AR 2016-03-10 Diabetologia www.ncbi.nlm.nih.gov/pubmed/26961502 Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively. Body mass index 29,925 British ancestry cases, 89,763 British ancestry controls NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 NR 4E-7 6.3979400086720375 (additive model) 0.04 [0.024-0.056] unit increase NR [9288881] (imputed) N 14 rs13107325 4 103188709 rs13107325 2018-12-17 29483656 Pardinas AF 2018-02-26 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29483656 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Schizophrenia 40,675 European ancestry cases, 64,643 European ancestry controls 1,651 European ancestry cases, 4,111 cases, 142,717 European ancestry controls, 11,507 controls 4q24 BANK1, SLC39A8 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 1E-16 16.0 1.1737089 [1.14-1.21] Illumina [8000000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-01 30573740 Yap CX 2018-12-20 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30573740 Dissection of genetic variation and evidence for pleiotropy in male pattern baldness. Male-pattern baldness 205,327 European ancestry males NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0758327 4E-20 19.397940008672037 0.0535076 [0.042-0.065] unit decrease NR [19129689] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-06 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Balding type 1 approximately 208,000 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 2E-10 9.698970004336019 NR [~ 8900000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-06 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Body mass index approximately 458,000 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 1E-36 36.0 NR [~ 8900000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Body fat percentage 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 4E-10 9.397940008672037 (male) 0.30825 [0.21-0.4] unit increase Affymetrix [7794483] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Body fat percentage 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 5E-10 9.301029995663981 0.25064 [0.17-0.33] unit increase Affymetrix [7794483] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Eczema approximately 459,000 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 2E-10 9.698970004336019 NR [~ 8900000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Lung function (FVC) approximately 372,000 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 9E-18 17.045757490560675 NR [~ 8900000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Red blood cell count approximately 445,000 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 6E-24 23.221848749616356 NR [~ 8900000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Systolic blood pressure approximately 422,000 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 1E-36 36.0 NR [~ 8900000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Waist-hip ratio approximately 458,000 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 1E-20 20.0 NR [~ 8900000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-08 30664745 Tachmazidou I 2019-01-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30664745 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. Osteoarthritis 77,052 European ancestry cases, 378,169 European ancestry controls NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.08 8E-19 18.096910013008056 1.1 [1.07-1.12] Affymetrix, Illumina [up to 17000000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Diastolic blood pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 5E-33 32.30102999566398 0.55 unit increase Affymetrix [at least 2696785] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Diastolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 4E-11 10.397940008672037 0.466 unit increase Affymetrix [at least 2696785] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Diastolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 8E-11 10.096910013008056 (EA) 0.477 unit increase Affymetrix [at least 2696785] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Systolic blood pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 2E-21 20.69897000433602 0.719 unit increase Affymetrix [at least 2696785] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Systolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 1E-8 8.0 (EA) 0.646 unit increase Affymetrix [at least 2696785] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Systolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 3E-9 8.522878745280337 0.643 unit increase Affymetrix [at least 2696785] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 0.925 6E-21 20.221848749616356 (EA) 0.067 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 NR 6E-22 21.221848749616356 0.067 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 NR 8E-6 5.096910013008056 0.038 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 0.925 1E-9 9.0 (EA) 0.053 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-C rs13107325 0 13107325 missense_variant 0 NR 5E-11 10.301029995663981 0.055 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-03-07 30578418 Giri A 2018-12-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30578418 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. Diastolic blood pressure 365,998 European ancestry individuals, 63,490 African ancestry individuals, 22,802 Hispanic individuals, 4,792 Asian ancestry individuals, 2,695 Native American ancestry individuals 299,024 European ancestry individuals, 17,277 individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.3032 8E-12 11.096910013008056 0.322 [0.23-0.41] mmHg decrease Affymetrix [NR] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-03-07 30578418 Giri A 2018-12-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30578418 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. Systolic blood pressure 365,998 European ancestry individuals, 63,490 African ancestry individuals, 22,802 Hispanic individuals, 4,792 Asian ancestry individuals, 2,695 Native American ancestry individuals 299,024 European ancestry individuals, 17,277 individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0752 1E-17 17.0 0.5532 [0.43-0.68] mmHg decrease Affymetrix [NR] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Alcohol consumption (drinks per week) 414,343 European ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0744 1E-24 24.0 0.04357754 [0.035-0.052] unit decrease Affymetrix [11514936] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Risk-taking tendency (4-domain principal component model) 315,894 European ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0734 4E-13 12.397940008672037 0.035913233 [0.026-0.046] unit decrease Affymetrix [~ 11515000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-03-19 30649180 Luo Q 2019-01-16 JAMA Psychiatry www.ncbi.nlm.nih.gov/pubmed/30649180 Association of a Schizophrenia-Risk Nonsynonymous Variant With Putamen Volume in Adolescents: A Voxelwise and Genome-Wide Association Study. Voxel-wise structural brain imaging measurements 1,721 European ancestry adolescent individuals 6,932 British ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 2E-11 10.698970004336019 (left putamen peak voxel) Illumina [466114] N 14 rs13107325 4 103188709 rs13107325 2019-03-19 30649180 Luo Q 2019-01-16 JAMA Psychiatry www.ncbi.nlm.nih.gov/pubmed/30649180 Association of a Schizophrenia-Risk Nonsynonymous Variant With Putamen Volume in Adolescents: A Voxelwise and Genome-Wide Association Study. Voxel-wise structural brain imaging measurements 1,721 European ancestry adolescent individuals 6,932 British ancestry individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-? rs13107325 0 13107325 missense_variant 0 NR 9E-18 17.045757490560675 (right putamen peak voxel) Illumina [466114] N 14 rs13107325 4 103188709 rs13107325 2019-03-28 30643251 Liu M 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643251 Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Alcohol consumption (drinks per week) up to 941,280 European ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0722 2E-22 21.69897000433602 0.027504515 [0.022-0.033] unit decrease NR [~ 10000000] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-03-28 30643251 Liu M 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643251 Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Alcohol consumption (drinks per week) (MTAG) up to 1,039,210 European ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 0.0722 1E-23 23.0 0.0256461 [0.021-0.031] unit decrease NR [~ 9732723] (imputed) N 14 rs13107325 4 103188709 rs13107325 2019-04-12 30846698 Dashti HS 2019-03-07 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30846698 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. Sleep duration (short sleep) 106,192 European ancestry cases, 305,742 European ancestry controls 47,180 adults, 10,554 children or adolescents 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13107325-T rs13107325 0 13107325 missense_variant 0 NR 3E-13 12.522878745280337 1.078 NR [14661600] (imputed) N 14 rs13107325 4 103198082 rs13135092 2016-07-08 25961943 Surakka I 2015-05-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/25961943 The impact of low-frequency and rare variants on lipid levels. HDL cholesterol up to 62,166 European ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 0.97 3E-13 12.522878745280337 0.129 [0.094-0.164] s.d. increase Affymetrix, Illumina, Perlegen [up to 9657952] (imputed) N 14 rs13107325 4 103198082 rs13135092 2018-07-09 29691431 Tikkanen E 2018-04-24 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29691431 Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank. Hand grip strength 334,825 British ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 0.9169 3E-26 25.522878745280337 0.005 [0.004-0.006] unit increase Affymetrix [15275733] (imputed) N 14 rs13107325 4 103198082 rs13135092 2018-11-26 30275531 Klarin D 2018-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30275531 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. Total cholesterol levels 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals Up to 319,677 individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 0.9185 4E-9 8.397940008672037 0.0308 [0.021-0.041] mg dl−1 increase Affymetrix [up to 31400000] (imputed) N 14 rs13107325 4 103198082 rs13135092 2018-12-14 30336701 Sanchez-Roige S 2018-10-19 Am J Psychiatry www.ncbi.nlm.nih.gov/pubmed/30336701 Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts. Alcohol use disorder (dependence and problematic use scores) 121,604 British ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13135092-G rs13135092 0 13135092 intron_variant 0 NR 5E-15 14.301029995663981 0.01 [NR] unit decrease NR [16213998] N 14 rs13107325 4 103198082 rs13135092 2018-12-14 30336701 Sanchez-Roige S 2018-10-19 Am J Psychiatry www.ncbi.nlm.nih.gov/pubmed/30336701 Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts. Alcohol use disorder (total score) 141,932 European ancestry individuals NA 4q24 RN7SL728P, SLC39A8 SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 NR 3E-14 13.522878745280337 7.59 [NR] z score increase NR [16213998] N 14 rs13107325 4 103198082 rs13135092 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. White blood cell count approximately 444,000 European ancestry individuals NA 4q24 SLC39A8 ENSG00000138821 rs13135092-? rs13135092 0 13135092 intron_variant 0 NR 4E-9 8.397940008672037 NR [~ 8900000] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 0.919 2E-19 18.69897000433602 (EA) 0.063 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 NR 7E-21 20.154901959985743 0.063 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 0.919 7E-6 5.154901959985743 (EA) 0.039 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 NR 3E-6 5.522878745280337 0.039 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 0.919 8E-10 9.096910013008056 (EA) 0.052 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q24 NR SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 NR 5E-11 10.301029995663981 0.054 unit increase Affymetrix [at least 7091467] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-02-28 30677029 Riveros-McKay F 2019-01-24 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/30677029 Genetic architecture of human thinness compared to severe obesity. Obese vs. thin 1,456 British ancestry obese children, 1,471 European ancestry thin adults up to 7,526 British ancestry obese individuals, 7,962 obese individuals, up to 3,532 British ancestry thin individuals, 8,106 thin individuals 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13135092-G rs13135092 0 13135092 intron_variant 0 0.07243 1E-8 8.0 1.32 [1.20-1.45] Illumina [41266535] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-03-12 30670697 Kilpelainen TO 2019-01-22 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30670697 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. HDL cholesterol x physical activity interaction (2df test) 7,395 African American inactive individuals, 13,092 African American active individuals, 2,753 Asian ancestry inactive individuals, 3,650 Asian ancestry active individuals, 22,963 European ancestry inactive individuals, 61,939 European ancestry active individuals, 2,829 Hispanic or Latin American inactive individuals, 6,358 Hispanic or Latin American active individuals 1,886 African American inactive individuals, 1,892 African American active individuals, 1,217 South African Black ancestry inactive individuals, 389 South African Black ancestry active individuals, 2,494 East Asian ancestry inactive individuals, 1,947 East Asian ancestry active individuals, 724 South Asian ancestry inactive individuals, 1,425 South Asian ancestry active individuals, 41,042 European ancestry inactive individuals, 66,575 European ancestry active individuals, 2,619 Hispanic inactive individuals, 8,802 Hispanic active individuals 4q24 NR SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 0.9311 5E-19 18.30102999566398 Affymetrix, Illumina [at least 2500000] (imputed) N 14 rs13107325 4 103198082 rs13135092 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Adventurousness 557,923 European ancestry individuals NA 4q24 SLC39A8 SLC39A8 ENSG00000138821 rs13135092-A rs13135092 0 13135092 intron_variant 0 0.9119 3E-11 10.522878745280337 0.022803178 [0.016-0.03] unit increase Illumina [9339358] (imputed) N 15 rs75686861 4 145621328 rs75686861 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Lung function (FVC) approximately 372,000 European ancestry individuals NA 4q31.21 HHIP, AC098588.1, AC098588.2 ENSG00000164161, ENSG00000285713, ENSG00000285783 rs75686861-? rs75686861 0 75686861 intron_variant 0 NR 1E-22 22.0 NR [~ 8900000] (imputed) N 15 rs75686861 4 145659064 rs11727676 2016-01-27 25673413 Locke AE 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673413 Genetic studies of body mass index yield new insights for obesity biology. Body mass index up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychellois male individuals, 287 Seychellois female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals 4q31.21 HHIP AC098588.1, HHIP, AC098588.2 ENSG00000285713, ENSG00000164161, ENSG00000285783 rs11727676-T rs11727676 0 11727676 synonymous_variant 0 0.91 3E-8 7.522878745280337 (EA) 0.036 [0.023-0.048] kg/m2 increase Affymetrix, Illumina [2550021] N 15 rs75686861 4 145659064 rs11727676 2016-01-27 25673413 Locke AE 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673413 Genetic studies of body mass index yield new insights for obesity biology. Body mass index up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychellois male individuals, 287 Seychellois female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals 4q31.21 HHIP AC098588.1, HHIP, AC098588.2 ENSG00000285713, ENSG00000164161, ENSG00000285783 rs11727676-T rs11727676 0 11727676 synonymous_variant 0 0.911 1E-6 6.0 (EA, men) 0.04 [0.024-0.057] kg/m2 increase Affymetrix, Illumina [2550021] N 15 rs75686861 4 145659064 rs11727676 2016-01-27 25673413 Locke AE 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673413 Genetic studies of body mass index yield new insights for obesity biology. Body mass index up to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828 Filipino female individuals, 205 Seychellois male individuals, 287 Seychellois female individuals, 2,964 South Asian ancestry male individuals, 658 South Asian ancestry female individuals 4q31.21 HHIP AC098588.1, HHIP, AC098588.2 ENSG00000285713, ENSG00000164161, ENSG00000285783 rs11727676-T rs11727676 0 11727676 synonymous_variant 0 0.911 6E-9 8.221848749616356 0.037 [0.024-0.049] kg/m2 increase Affymetrix, Illumina [2550021] N 15 rs75686861 4 145659064 rs11727676 2018-07-24 26426971 Winkler TW 2015-10-01 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/26426971 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Body mass index up to 309,889 European ancestry individuals NA 4q31.21 NR AC098588.1, HHIP, AC098588.2 ENSG00000285713, ENSG00000164161, ENSG00000285783 rs11727676-T rs11727676 0 11727676 synonymous_variant 0 0.909465157545266 6E-11 10.221848749616356 0.03790491 unit increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 15 rs75686861 4 145659064 rs11727676 2018-09-28 30108127 Hoffmann TJ 2018-08-14 Genetics www.ncbi.nlm.nih.gov/pubmed/30108127 A Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. Body mass index 315,347 European ancestry individuals, 8,322 Hispanic/Latino individuals, 7,290 East Asian ancestry individuals, 3,069 African American individuals, 459 South Asian ancestry individuals 431,743 European ancestry individuals, 9,275 South Asian ancestry individuals, 8,261 African British individuals, 1,822 East Asian ancestry individuals, 7,620 individuals 4q31.21 NR AC098588.1, HHIP, AC098588.2 ENSG00000285713, ENSG00000164161, ENSG00000285783 rs11727676-T rs11727676 0 11727676 synonymous_variant 0 NR 7E-9 8.154901959985743 0.029 [NR] unit increase Affymetrix [at least 28613428] (imputed) N 15 rs75686861 4 145659064 rs11727676 2018-10-31 30177863 Maguire LH 2018-09-03 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30177863 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. Diverticular disease 27,444 British ancestry cases, 382,284 British ancestry controls NA 4q31.21 HHIP AC098588.1, HHIP, AC098588.2 ENSG00000285713, ENSG00000164161, ENSG00000285783 rs11727676-C rs11727676 0 11727676 synonymous_variant 0 0.0963206128469402 1E-6 6.0 0.0044496 [NR] unit decrease Affymetrix [> 30000000] (imputed) N 15 rs75686861 4 145659064 rs11727676 2019-02-13 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 265,204 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q31.21 NR AC098588.1, HHIP, AC098588.2 ENSG00000285713, ENSG00000164161, ENSG00000285783 rs11727676-T  rs11727676 0 11727676 synonymous_variant 0 NR 4E-8 7.3979400086720375 0.028 unit increase Affymetrix [at least 7091467] (imputed) N 15 rs75686861 4 145659064 rs11727676 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 4q31.21 AC098588.1, HHIP, AC098588.2 ENSG00000285713, ENSG00000164161, ENSG00000285783 rs11727676-T rs11727676 0 11727676 synonymous_variant 0 NR 1E-6 6.0 0.03 unit increase Affymetrix [at least 7091467] (imputed) N 18 rs17205972 5 82857870 rs7733216 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Heel bone mineral density approximately 446,000 European ancestry individuals NA 5q14.3 VCAN-AS1, VCAN ENSG00000249835, ENSG00000038427 rs7733216-? rs7733216 0 7733216 non_coding_transcript_exon_variant 0 NR 3E-8 7.522878745280337 NR [~ 8900000] (imputed) N 18 rs17205972 5 82860485 rs67827860 2018-08-13 29752348 Rutten-Jacobs LCA 2018-05-11 Stroke www.ncbi.nlm.nih.gov/pubmed/29752348 Genetic Study of White Matter Integrity in UK Biobank (N=8448) and the Overlap With Stroke, Depression, and Dementia. White matter hyperintensity volume 8,429 European ancestry individuals NA 5q14.3 VCAN VCAN, VCAN-AS1 ENSG00000038427, ENSG00000249835 rs67827860-? rs67827860 0 67827860 intron_variant 0 NR 3E-6 5.522878745280337 Affymetrix [up to 39131578] (imputed) N 18 rs17205972 5 82860485 rs67827860 2018-08-13 29752348 Rutten-Jacobs LCA 2018-05-11 Stroke www.ncbi.nlm.nih.gov/pubmed/29752348 Genetic Study of White Matter Integrity in UK Biobank (N=8448) and the Overlap With Stroke, Depression, and Dementia. White matter integrity (fractional anisotropy) 8,239 European ancestry individuals NA 5q14.3 VCAN VCAN, VCAN-AS1 ENSG00000038427, ENSG00000249835 rs67827860-T rs67827860 0 67827860 intron_variant 0 0.19 1E-14 14.0 0.611 [0.46-0.77] unit decrease Affymetrix [up to 39131578] (imputed) N 18 rs17205972 5 82861400 rs13164785 2018-08-13 29752348 Rutten-Jacobs LCA 2018-05-11 Stroke www.ncbi.nlm.nih.gov/pubmed/29752348 Genetic Study of White Matter Integrity in UK Biobank (N=8448) and the Overlap With Stroke, Depression, and Dementia. White matter hyperintensity volume 8,429 European ancestry individuals NA 5q14.3 VCAN VCAN-AS1, VCAN ENSG00000249835, ENSG00000038427 rs13164785-? rs13164785 0 13164785 intron_variant 0 NR 4E-6 5.3979400086720375 Affymetrix [up to 39131578] (imputed) N 18 rs17205972 5 82861400 rs13164785 2018-08-13 29752348 Rutten-Jacobs LCA 2018-05-11 Stroke www.ncbi.nlm.nih.gov/pubmed/29752348 Genetic Study of White Matter Integrity in UK Biobank (N=8448) and the Overlap With Stroke, Depression, and Dementia. White matter integrity (mean diffusivity) 8,239 European ancestry individuals NA 5q14.3 VCAN VCAN-AS1, VCAN ENSG00000249835, ENSG00000038427 rs13164785-G rs13164785 0 13164785 intron_variant 0 0.19 4E-18 17.397940008672037 0.674 [0.52-0.82] unit increase Affymetrix [up to 39131578] (imputed) N 21 rs7766042 6 1367583 rs75294181 2019-02-01 30573740 Yap CX 2018-12-20 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30573740 Dissection of genetic variation and evidence for pleiotropy in male pattern baldness. Male-pattern baldness 205,327 European ancestry males NA 6p25.3 NR LINC01394 - AL034346.1 ENSG00000281809 ENSG00000261730 43326 16442 rs75294181-A rs75294181 0 75294181 regulatory_region_variant 1 0.0938284 2E-8 7.698970004336019 0.0294337 [0.019-0.04] unit increase NR [19129689] (imputed) N 22 rs115740542 6 25715657 rs116009877 2017-04-24 27846281 Galesloot TE 2016-11-15 PLoS One www.ncbi.nlm.nih.gov/pubmed/27846281 Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. Hepcidin/ferritin ratio 1495 European ancestry individuals without iron deficiency or clinical inflammation, 324 European ancestry individuals, 1206 Val Borbera (founder/genetic isolated) individuals without iron deficiency or clinical inflammation, 274 Val Borbera (founder/genetic isolated) individuals, 2,695 European ancestry individuals without iron deficiency or clinical inflammation, 207 individuals NA 6p22.2 HIST1H2AA SCGN - HIST1H2AA ENSG00000079689 ENSG00000164508 13646 10703 rs116009877-A rs116009877 0 116009877 regulatory_region_variant 1 0.0636 4E-13 12.397940008672037 (Subset) 0.3133 [0.23-0.4] unit decrease Illumina [up to 38043574] (imputed) N 22 rs115740542 6 25715657 rs116009877 2017-08-21 28334935 Raffield LM 2017-05-15 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334935 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? Iron status biomarkers (total iron binding capacity) 12,586 Hispanic/Latino individuals NA 6p22.2 SCGN, HIST1H2AA SCGN - HIST1H2AA ENSG00000079689 ENSG00000164508 13646 10703 rs116009877-G rs116009877 0 116009877 regulatory_region_variant 1 NR 4E-14 13.397940008672037 0.478 [0.35-0.6] unit increase Illumina [27700000] (imputed) N 22 rs115740542 6 25715657 rs116009877 2017-08-21 28334935 Raffield LM 2017-05-15 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334935 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? Iron status biomarkers (transferrin saturation) 12,589 Hispanic/Latino individuals NA 6p22.2 SCGN, HIST1H2AA SCGN - HIST1H2AA ENSG00000079689 ENSG00000164508 13646 10703 rs116009877-G rs116009877 0 116009877 regulatory_region_variant 1 NR 6E-12 11.221848749616356 0.366 [0.26-0.47] unit decrease Illumina [27700000] (imputed) N 22 rs115740542 6 25715657 rs116009877 2018-11-26 30275531 Klarin D 2018-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30275531 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. Total cholesterol levels 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals Up to 319,677 individuals 6p22.2 intergenic SCGN - HIST1H2AA ENSG00000079689 ENSG00000164508 13646 10703 rs116009877-A rs116009877 0 116009877 regulatory_region_variant 1 0.0533 2E-15 14.698970004336019 0.0533 [0.04-0.066] mg dl−1 decrease Affymetrix [up to 31400000] (imputed) N 22 rs115740542 6 25842951 rs1408272 2009-11-03 19862010 Ganesh SK 2009-10-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19862010 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Mean corpuscular hemoglobin 24,167 European ancestry individuals 9,456 European ancestry individuals 6p22.2 SLC17A3 SLC17A3 ENSG00000124564 rs1408272-G rs1408272 0 1408272 intron_variant 0 NR 4E-39 38.39794000867204 0.02 [0.01-0.02] pg decrease Affymetrix, Illumina [~ 2500000] (imputed) N 22 rs115740542 6 25842951 rs1408272 2010-08-18 19853236 Ferreira MA 2009-10-22 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/19853236 Sequence variants in three loci influence monocyte counts and erythrocyte volume. Hematology traits 2,538 European ancestry individuals, 3,477 individuals 1,543 individuals 6p22.2 HFE SLC17A3 ENSG00000124564 rs1408272-T rs1408272 0 1408272 intron_variant 0 0.94 1E-11 11.0 (MCH) 0.32 [0.22-0.42] s.d. decrease Illumina, Perlegen [~ 2500000] (imputed) N 22 rs115740542 6 25842951 rs1408272 2011-01-15 21149283 Oexle K 2010-12-10 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/21149283 Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Iron status biomarkers Up to 6,616 individuals NA 6p22.2 HFE SLC17A3 ENSG00000124564 rs1408272-T rs1408272 0 1408272 intron_variant 0 NR 9E-9 8.045757490560675 (sTfR) 0.038 [0.03-0.05] unit increase Affymetrix, Illumina [~ 2500000] (imputed) N 22 rs115740542 6 25842951 rs1408272 2013-03-19 23222517 van der Harst P 2012-12-05 Nature www.ncbi.nlm.nih.gov/pubmed/23222517 Seventy-five genetic loci influencing the human red blood cell. Red blood cell traits 62,553 European ancestry individuals, 9,308 South Asian ancestry individuals 63,506 European ancestry individuals 6p22.2 HFE, SLC17A3 SLC17A3 ENSG00000124564 rs1408272-G rs1408272 0 1408272 intron_variant 0 0.07 5E-67 66.30102999566398 (EA, MCH) 0.033 [0.015-0.051] unit increase Affymetrix, Illumina, Perlegen [2711806] (imputed) N 22 rs115740542 6 25842951 rs1408272 2017-04-24 27846281 Galesloot TE 2016-11-15 PLoS One www.ncbi.nlm.nih.gov/pubmed/27846281 Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. Hepcidin/ferritin ratio 1495 European ancestry individuals without iron deficiency or clinical inflammation, 324 European ancestry individuals, 1206 Val Borbera (founder/genetic isolated) individuals without iron deficiency or clinical inflammation, 274 Val Borbera (founder/genetic isolated) individuals, 2,695 European ancestry individuals without iron deficiency or clinical inflammation, 207 individuals NA 6p22.2 SLC17A3 SLC17A3 ENSG00000124564 rs1408272-T rs1408272 0 1408272 intron_variant 0 0.9388 3E-14 13.522878745280337 0.307 [0.23-0.39] unit increase Illumina [up to 38043574] (imputed) N 22 rs115740542 6 25842951 rs1408272 2017-05-11 28017375 van Rooij FJA 2016-12-22 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/28017375 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. Hematocrit up to 40,258 European ancestry individuals, up to 16,128 African American individuals, up to 15,252 East Asian ancestry individuals. 16,389 European and African American individuals 6p22.2 HFE, HIST1H1T SLC17A3 ENSG00000124564 rs1800562-? rs1408272 0 1408272 intron_variant 0 NR 1E-8 8.0 NR [2500000] (imputed) N 22 rs115740542 6 25842951 rs1408272 2017-05-11 28017375 van Rooij FJA 2016-12-22 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/28017375 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. Mean corpuscular hemoglobin up to 21,020 European ancestry individuals, up to 3,621 African American individuals, up to 15,062 East Asian individuals. 16,389 individuals of European and African American ancestry. 6p22.2 HFE, HIST1H1T SLC17A3 ENSG00000124564 rs1408272-? rs1408272 0 1408272 intron_variant 0 NR 3E-31 30.522878745280337 NR [2500000] (imputed) N 22 rs115740542 6 25857920 rs79920061 2017-04-24 27846281 Galesloot TE 2016-11-15 PLoS One www.ncbi.nlm.nih.gov/pubmed/27846281 Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. Hepcidin/ferritin ratio 1495 European ancestry individuals without iron deficiency or clinical inflammation, 324 European ancestry individuals, 1206 Val Borbera (founder/genetic isolated) individuals without iron deficiency or clinical inflammation, 274 Val Borbera (founder/genetic isolated) individuals, 2,695 European ancestry individuals without iron deficiency or clinical inflammation, 207 individuals NA 6p22.2 SLC17A3 SLC17A3 ENSG00000124564 rs79920061-A rs79920061 0 79920061 intron_variant 0 0.0633 2E-14 13.698970004336019 (Subset) 0.3336 [0.25-0.42] unit decrease Illumina [up to 38043574] (imputed) N 22 rs115740542 6 25857920 rs79920061 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 6p22.2 SLC17A3 SLC17A3 ENSG00000124564 rs79920061-A rs79920061 0 79920061 intron_variant 0 0.081 6E-27 26.221848749616356 (N-acetylated-alpha-linked acidic dipeptidase 2, NAALAD2.7986.98.3) 0.48 [0.4-0.56] unit decrease Affymetrix [10572788] (imputed) N 22 rs115740542 6 25918225 rs80215559 2017-08-21 28334935 Raffield LM 2017-05-15 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334935 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? Iron status biomarkers (total iron binding capacity) 12,586 Hispanic/Latino individuals NA 6p22.2 SLC17A2 SLC17A2 ENSG00000112337 rs80215559-T rs80215559 0 80215559 intron_variant 0 NR 7E-17 16.154901959985743 0.501 [0.38-0.62] unit increase Illumina [27700000] (imputed) N 22 rs115740542 6 25918225 rs80215559 2018-11-26 30275531 Klarin D 2018-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30275531 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. LDL cholesterol 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals Up to 319,677 individuals 6p22.2 SLC17A2 SLC17A2 ENSG00000112337 rs80215559-T rs80215559 0 80215559 intron_variant 0 0.9398 3E-21 20.522878745280337 0.0565 [0.045-0.068] mg dl−1 increase Affymetrix [up to 31400000] (imputed) N 22 rs115740542 6 26072992 rs144861591 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Hematocrit 173,039 European ancestry individuals NA 6p22.2 intergenic HIST1H1C - HFE ENSG00000187837 ENSG00000010704 16336 14517 rs144861591-T rs144861591 0 144861591 intergenic_variant 1 0.0771 7E-65 64.15490195998575 0.112755 [0.1-0.126] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26072992 rs144861591 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Hemoglobin concentration 172,925 European ancestry individuals NA 6p22.2 intergenic HIST1H1C - HFE ENSG00000187837 ENSG00000010704 16336 14517 rs144861591-T rs144861591 0 144861591 intergenic_variant 1 0.0771 1E-162 162.0 0.1809882 [0.17-0.19] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26072992 rs144861591 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Mean corpuscular hemoglobin 172,332 European ancestry individuals NA 6p22.2 intergenic HIST1H1C - HFE ENSG00000187837 ENSG00000010704 16336 14517 rs144861591-T rs144861591 0 144861591 intergenic_variant 1 0.077 1E-515 515.0 0.3222512 [0.31-0.34] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26072992 rs144861591 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Mean corpuscular volume 172,433 European ancestry individuals NA 6p22.2 intergenic HIST1H1C - HFE ENSG00000187837 ENSG00000010704 16336 14517 rs144861591-T rs144861591 0 144861591 intergenic_variant 1 0.077 1E-340 340.0 0.2611127 [0.25-0.27] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26072992 rs144861591 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Red cell distribution width 171,529 European ancestry individuals NA 6p22.2 intergenic HIST1H1C - HFE ENSG00000187837 ENSG00000010704 16336 14517 rs144861591-T rs144861591 0 144861591 intergenic_variant 1 0.0771 7E-216 215.15490195998575 0.2083623 [0.2-0.22] unit decrease Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2009-01-14 19084217 Benyamin B 2008-12-17 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/19084217 Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. Iron status biomarkers 459 European ancestry twin pairs NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-? rs1800562 0 1800562 missense_variant 0 NR 1E-10 10.0 (serum transferrin) 0.68 [0.48-0.88] s.d. decrease Illumina [315887] N 22 rs115740542 6 26093141 rs1800562 2009-01-14 19084217 Benyamin B 2008-12-17 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/19084217 Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. Iron status biomarkers 459 European ancestry twin pairs NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-? rs1800562 0 1800562 missense_variant 0 NR 4E-11 10.397940008672037 (serum iron) 0.66 [0.46-0.86] s.d. increase Illumina [315887] N 22 rs115740542 6 26093141 rs1800562 2009-01-14 19084217 Benyamin B 2008-12-17 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/19084217 Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. Iron status biomarkers 459 European ancestry twin pairs NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-? rs1800562 0 1800562 missense_variant 0 NR 4E-15 14.397940008672037 (transferrin saturation) Illumina [315887] N 22 rs115740542 6 26093141 rs1800562 2009-10-30 19820697 Soranzo N 2009-10-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19820697 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Hematological parameters 4,627 European ancestry individuals 9,316 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 NR 1E-23 23.0 (MCV) 1.41 [1.13-1.69] fl increase Affymetrix, Illumina [~ 2110000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2009-11-03 19862010 Ganesh SK 2009-10-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19862010 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Hematocrit 24,167 European ancestry individuals 9,456 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 NR 2E-9 8.698970004336019 0.31 [0.21-0.41] % increase Affymetrix, Illumina [~ 2500000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2009-11-03 19862010 Ganesh SK 2009-10-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19862010 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Hemoglobin 24,167 European ancestry individuals 9,456 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 NR 6E-19 18.221848749616356 0.16 [0.13-0.20] g/dl increase Affymetrix, Illumina [~ 2500000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2009-11-03 19862010 Ganesh SK 2009-10-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19862010 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Mean corpuscular volume 24,167 European ancestry individuals 9,456 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 NR 1E-46 46.0 0.01 [0.010-0.014] fl increase Affymetrix, Illumina [~ 2500000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2009-11-05 19820699 Benyamin B 2009-10-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19820699 Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Iron status biomarkers 4,818 European ancestry individuals 3,470 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.08 2E-8 7.698970004336019 (MCV) 0.22 [0.14-0.30] s.d. increase Illumina, Perlegen [427037] N 22 rs115740542 6 26093141 rs1800562 2009-11-05 19820699 Benyamin B 2009-10-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19820699 Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Iron status biomarkers 4,818 European ancestry individuals 3,470 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.08 5E-7 6.301029995663981 (Hgb) 0.2 [0.12-0.28] s.d. increase Illumina, Perlegen [427037] N 22 rs115740542 6 26093141 rs1800562 2010-10-07 20858683 Soranzo N 2010-09-21 Diabetes www.ncbi.nlm.nih.gov/pubmed/20858683 Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Glycated hemoglobin levels up to 46,368 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 0.94 3E-20 19.522878745280337 0.06 [0.05-0.07] % increase Affymetrix, Illumina [~ 2500000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2010-10-15 20927387 Kullo IJ 2010-09-28 PLoS One www.ncbi.nlm.nih.gov/pubmed/20927387 A genome-wide association study of red blood cell traits using the electronic medical record. Red blood cell traits 3,012 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.06 3E-9 8.522878745280337 (MCH) 0.49 [0.33-0.65] unit increase Illumina [489421] N 22 rs115740542 6 26093141 rs1800562 2010-10-15 20927387 Kullo IJ 2010-09-28 PLoS One www.ncbi.nlm.nih.gov/pubmed/20927387 A genome-wide association study of red blood cell traits using the electronic medical record. Red blood cell traits 3,012 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.06 3E-9 8.522878745280337 (MCH) 0.49 [NR] unit increase Illumina [489421] N 22 rs115740542 6 26093141 rs1800562 2010-10-15 20927387 Kullo IJ 2010-09-28 PLoS One www.ncbi.nlm.nih.gov/pubmed/20927387 A genome-wide association study of red blood cell traits using the electronic medical record. Red blood cell traits 3,012 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.06 6E-7 6.221848749616356 (MCV) 1.09 [NR] unit increase Illumina [489421] N 22 rs115740542 6 26093141 rs1800562 2011-07-07 21665994 Kutalik Z 2011-06-10 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/21665994 Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. Alcohol consumption (transferrin glycosylation) 5,181 European ancestry individuals 2,284 European ancestry individauls 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.045 2E-32 31.69897000433602 (Total transferrin) 0.629 [0.53-0.73] unit decrease Affymetrix [390631] (imputed) N 22 rs115740542 6 26093141 rs1800562 2011-08-18 21785125 Traglia M 2011-07-25 J Med Genet www.ncbi.nlm.nih.gov/pubmed/21785125 Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. Hepcidin levels 1,657 Val Borbera (founder/genetic isolate) individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-? rs1800562 0 1800562 missense_variant 0 NR 3E-15 14.522878745280337 (Tf Sat) 0.61 [0.46-0.76] ng/ml increase Illumina [343866] N 22 rs115740542 6 26093141 rs1800562 2011-08-18 21785125 Traglia M 2011-07-25 J Med Genet www.ncbi.nlm.nih.gov/pubmed/21785125 Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. Hepcidin levels 1,657 Val Borbera (founder/genetic isolate) individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-? rs1800562 0 1800562 missense_variant 0 NR 3E-7 6.522878745280337 (ferritin) 0.389 [0.24-0.54] ng/ml increase Illumina [343866] N 22 rs115740542 6 26093141 rs1800562 2011-08-18 21785125 Traglia M 2011-07-25 J Med Genet www.ncbi.nlm.nih.gov/pubmed/21785125 Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. Hepcidin levels 1,657 Val Borbera (founder/genetic isolate) individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-? rs1800562 0 1800562 missense_variant 0 NR 4E-9 8.397940008672037 (Iron) 0.442 [0.29-0.59] ng/ml increase Illumina [343866] N 22 rs115740542 6 26093141 rs1800562 2011-08-18 21785125 Traglia M 2011-07-25 J Med Genet www.ncbi.nlm.nih.gov/pubmed/21785125 Association of HFE and TMPRSS6 genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations. Hepcidin levels 1,657 Val Borbera (founder/genetic isolate) individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-? rs1800562 0 1800562 missense_variant 0 NR 5E-11 10.301029995663981 (Tf) 0.51 [0.36-0.66] ng/ml decrease Illumina [343866] N 22 rs115740542 6 26093141 rs1800562 2011-10-20 21943158 Middelberg RP 2011-09-24 BMC Med Genet www.ncbi.nlm.nih.gov/pubmed/21943158 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. Cardiovascular disease risk factors 11,683 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.08 5E-12 11.301029995663981 (FERR) 0.177 [0.13-0.23] mg/l increase Illumina [NR] (imputed) N 22 rs115740542 6 26093141 rs1800562 2012-01-25 20686565 Teslovich TM 2010-08-05 Nature www.ncbi.nlm.nih.gov/pubmed/20686565 Biological, clinical and population relevance of 95 loci for blood lipids. Cholesterol, total 100,184 European ancestry individuals NA 6p22.2 HFE, HIST1H4C HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.06 2E-8 7.698970004336019 2.16 [1.32-3] mg/dL decrease Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2012-01-25 20686565 Teslovich TM 2010-08-05 Nature www.ncbi.nlm.nih.gov/pubmed/20686565 Biological, clinical and population relevance of 95 loci for blood lipids. LDL cholesterol 95,454 European ancestry individuals NA 6p22.2 HFE, HIST1H4C HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.06 6E-10 9.221848749616356 2.22 [1.46-2.98] mg/dL decrease Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2013-03-15 23263863 Li J 2012-12-20 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/23263863 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. Hematology traits 7,943 African American children, 6,234 European ancestry children NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 NR 2E-6 5.698970004336019 (HGB) 0.1944 [0.11-0.27] unit increase Illumina [544917] N 22 rs115740542 6 26093141 rs1800562 2013-03-20 23263863 Li J 2012-12-20 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/23263863 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. Mean corpuscular hemoglobin 7,943 African American children, 6,234 European ancestry children NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 NR 7E-9 8.154901959985743 0.3558 [0.24-0.48] unit increase Illumina [544917] N 22 rs115740542 6 26093141 rs1800562 2013-04-24 21483845 McLaren CE 2011-03-31 PLoS One www.ncbi.nlm.nih.gov/pubmed/21483845 Genome-wide association study identifies genetic loci associated with iron deficiency. Iron status biomarkers 336 European ancestry iron deficiency cases, 343 European ancestry controls 71 European ancestry iron deficiency cases, 161 European ancestry controls 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 NR 3E-8 7.522878745280337 (Total iron-binding capacity) 35.36 [NR] ug/dL decrease Illumina [331060] N 22 rs115740542 6 26093141 rs1800562 2013-04-24 21483845 McLaren CE 2011-03-31 PLoS One www.ncbi.nlm.nih.gov/pubmed/21483845 Genome-wide association study identifies genetic loci associated with iron deficiency. Iron status biomarkers 336 European ancestry iron deficiency cases, 343 European ancestry controls 71 European ancestry iron deficiency cases, 161 European ancestry controls 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 NR 6E-10 9.221848749616356 (Unsaturated iron-binding capacity) 44.27 [NR] ug/dL decrease Illumina [331060] N 22 rs115740542 6 26093141 rs1800562 2013-06-28 23446634 Chen Z 2013-02-26 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/23446634 Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Red blood cell traits Up to 16,485 African American individuals 9,692 African American individuals, 21,020 European ancestry individuals, 14,088 Japanese ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.0151 4E-6 5.3979400086720375 (Hgb, AA) 0.2388 [0.14-0.34] g/dL increase Affymetrix, Illumina [NR] N 22 rs115740542 6 26093141 rs1800562 2014-05-12 24097068 Willer CJ 2013-10-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24097068 Discovery and refinement of loci associated with lipid levels. Cholesterol, total 94,595 European ancestry individuals 93,982 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.07 2E-12 11.698970004336019 0.056 [NR] unit decrease NR [NR] (imputed) N 22 rs115740542 6 26093141 rs1800562 2014-05-12 24097068 Willer CJ 2013-10-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24097068 Discovery and refinement of loci associated with lipid levels. LDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.07 8E-14 13.096910013008056 0.062 [NR] unit decrease NR [NR] (imputed) N 22 rs115740542 6 26093141 rs1800562 2015-05-23 25224454 Li J 2014-09-15 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/25224454 Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. Iron status biomarkers 2,347 African American individuals 329 African American individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.01 2E-6 5.698970004336019 (TIBC) 24.63 [14.58-34.68] unit decrease Affymetrix [~ 17000000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2015-06-14 25352340 Benyamin B 2014-10-29 Nat Commun www.ncbi.nlm.nih.gov/pubmed/25352340 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Iron status biomarkers (ferritin levels) 23,986 European ancestry individuals Up to 24,986 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.067 2E-38 37.69897000433602 0.204 [0.17-0.24] unit increase Affymetrix, Illumina [~ 2100000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2015-06-14 25352340 Benyamin B 2014-10-29 Nat Commun www.ncbi.nlm.nih.gov/pubmed/25352340 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Iron status biomarkers (iron levels) 23,986 European ancestry individuals Up to 24,986 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.067 3E-97 96.52287874528034 0.328 [0.30-0.36] unit increase Affymetrix, Illumina [~ 2100000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2015-06-14 25352340 Benyamin B 2014-10-29 Nat Commun www.ncbi.nlm.nih.gov/pubmed/25352340 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Iron status biomarkers (transferrin levels) 23,986 European ancestry individuals Up to 24,986 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.067 9E-196 195.04575749056067 0.479 [0.45-0.51] unit decrease Affymetrix, Illumina [~ 2100000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2015-06-14 25352340 Benyamin B 2014-10-29 Nat Commun www.ncbi.nlm.nih.gov/pubmed/25352340 Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Iron status biomarkers (transferrin saturation) 23,986 European ancestry individuals Up to 24,986 European ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.067 2E-270 269.69897000433605 0.577 [0.55-0.61] unit increase Affymetrix, Illumina [~ 2100000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2017-04-24 27846281 Galesloot TE 2016-11-15 PLoS One www.ncbi.nlm.nih.gov/pubmed/27846281 Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. Hepcidin/ferritin ratio 1495 European ancestry individuals without iron deficiency or clinical inflammation, 324 European ancestry individuals, 1206 Val Borbera (founder/genetic isolated) individuals without iron deficiency or clinical inflammation, 274 Val Borbera (founder/genetic isolated) individuals, 2,695 European ancestry individuals without iron deficiency or clinical inflammation, 207 individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.058 2E-14 13.698970004336019 0.3097 [0.23-0.39] unit decrease Illumina [up to 38043574] (imputed) N 22 rs115740542 6 26093141 rs1800562 2017-04-24 27846281 Galesloot TE 2016-11-15 PLoS One www.ncbi.nlm.nih.gov/pubmed/27846281 Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin. Hepcidin/ferritin ratio 1495 European ancestry individuals without iron deficiency or clinical inflammation, 324 European ancestry individuals, 1206 Val Borbera (founder/genetic isolated) individuals without iron deficiency or clinical inflammation, 274 Val Borbera (founder/genetic isolated) individuals, 2,695 European ancestry individuals without iron deficiency or clinical inflammation, 207 individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.0608 1E-15 15.0 (Subset) 0.3455 [0.26-0.43] unit decrease Illumina [up to 38043574] (imputed) N 22 rs115740542 6 26093141 rs1800562 2017-08-21 28334935 Raffield LM 2017-05-15 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334935 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? Iron status biomarkers (total iron binding capacity) 12,586 Hispanic/Latino individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 NR 4E-18 17.397940008672037 0.522 [0.4-0.64] unit increase Illumina [27700000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2017-08-21 28334935 Raffield LM 2017-05-15 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334935 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation? Iron status biomarkers (total iron binding capacity) 12,586 Hispanic/Latino individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 NR 4E-18 17.397940008672037 0.522 unit increase Illumina [27700000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Red blood cell count 172,952 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.0841 5E-15 14.301029995663981 0.04991289 [0.037-0.062] unit decrease Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2017-09-22 28739976 Wain LV 2017-07-24 Hypertension www.ncbi.nlm.nih.gov/pubmed/28739976 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Diastolic blood pressure 150,134 European ancestry individuals 87,359 European ancestry individuals, 140,886 European and unknown ancestry individuals 6p22.2 intergenic HFE ENSG00000010704 rs1800562-A rs1800562 0 1800562 missense_variant 0 0.059 9E-17 16.045757490560675 0.394 [0.3-0.49] unit increase Affymetrix, Illumina, Perlegen [7994604] (imputed) N 22 rs115740542 6 26093141 rs1800562 2017-10-24 28898252 Wheeler E 2017-09-12 PLoS Med www.ncbi.nlm.nih.gov/pubmed/28898252 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. Glycated hemoglobin levels 88,355 European ancestry individuals,18,472 East Asian ancestry individuals, 7,572 South Asian ancestry individuals, 7,564 African American individuals 33,238 European ancestry individuals, 2,366 East Asian ancestry individuals, 1,302 South Asian ancestry individuals 6p22.2 HFE HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 0.9279 5E-28 27.30102999566398 (European) 0.0398 [0.033-0.047] unit increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 22 rs115740542 6 26093141 rs1800562 2019-01-21 30374069 Styrkarsdottir U 2018-10-29 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30374069 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. Osteoarthritis (hip) 17,151 European ancestry cases, 596,639 European ancestry controls NA 6p22.2 HFE HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 NR 5E-14 13.301029995663981 (recessive) 1.95 [1.64-2.32] Affymetrix, Illumina [11554240] (imputed) N 22 rs115740542 6 26093141 rs1800562 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 6p22.2 NR HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 0.939 2E-23 22.69897000433602 (EA) 0.099 unit increase Affymetrix [at least 7091467] (imputed) N 22 rs115740542 6 26093141 rs1800562 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 6p22.2 NR HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 NR 3E-23 22.522878745280337 0.095 unit increase Affymetrix [at least 7091467] (imputed) N 22 rs115740542 6 26093141 rs1800562 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 6p22.2 NR HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 0.939 9E-20 19.045757490560675 (EA) 0.088 unit increase Affymetrix [at least 7091467] (imputed) N 22 rs115740542 6 26093141 rs1800562 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 6p22.2 NR HFE ENSG00000010704 rs1800562-G rs1800562 0 1800562 missense_variant 0 NR 9E-19 18.045757490560675 0.083 unit increase Affymetrix [at least 7091467] (imputed) N 22 rs115740542 6 26098474 rs79220007 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. High light scatter reticulocyte count 170,761 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs79220007-C rs79220007 0 79220007 3_prime_UTR_variant 0 0.0768 2E-36 35.69897000433602 0.08471254 [0.072-0.098] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26098474 rs79220007 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. High light scatter reticulocyte percentage of red cells 170,763 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs79220007-C rs79220007 0 79220007 3_prime_UTR_variant 0 0.0768 1E-42 42.0 0.09205511 [0.079-0.105] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26098474 rs79220007 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Mean corpuscular hemoglobin concentration 172,851 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs79220007-C rs79220007 0 79220007 3_prime_UTR_variant 0 0.0767 1E-209 209.0 0.201 [0.19-0.21] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26098474 rs79220007 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Reticulocyte count 170,641 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs79220007-C rs79220007 0 79220007 3_prime_UTR_variant 0 0.0768 2E-70 69.69897000433602 0.119551 [0.11-0.13] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26098474 rs79220007 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Reticulocyte fraction of red cells 170,690 European ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs79220007-C rs79220007 0 79220007 3_prime_UTR_variant 0 0.0768 5E-88 87.30102999566398 0.1340241 [0.12-0.15] unit increase Affymetrix [~ 2500000] (imputed) N 22 rs115740542 6 26098474 rs79220007 2018-12-17 28957414 Pilling LC 2017-09-28 PLoS One www.ncbi.nlm.nih.gov/pubmed/28957414 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. Red cell distribution width 116,666 British ancestry individuals NA 6p22.2 HFE HFE ENSG00000010704 rs79220007-C rs79220007 0 79220007 3_prime_UTR_variant 0 NR 2E-135 134.69897000433602 0.180118 [0.17-0.19] unit decrease Affymetrix [16832071] (imputed) N 22 rs115740542 6 26098474 rs79220007 2019-03-12 30670697 Kilpelainen TO 2019-01-22 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30670697 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. LDL cholesterol x physical activity interaction (2df test) 7,260 African American inactive individuals, 12,761 African American active individuals, 2,740 Asian ancestry inactive individuals, 3,615 Asian ancestry active individuals, 22,378 European ancestry inactive individuals, 55,310 European ancestry active individuals, 2,163 Hispanic or Latin American inactive individuals, 3,461 Hispanic or Latin American active individuals 571 African American inactive individuals, 1,521 African American active individuals, 1,217 South African Black ancestry inactive individuals, 389 South African Black ancestry active individuals, 2,495 East Asian ancestry inactive individuals, 1,947 East Asian ancestry active individuals, 724 South Asian ancestry inactive individuals, 1,425 South Asian ancestry active individuals, 33,796 European ancestry inactive individuals, 50,812 European ancestry active individuals, 2,578 Hispanic inactive individuals, 8,661 Hispanic active individuals 6p22.2 NR HFE ENSG00000010704 rs79220007-T rs79220007 0 79220007 3_prime_UTR_variant 0 0.9473 7E-16 15.154901959985743 Affymetrix, Illumina [at least 2500000] (imputed) N 22 rs115740542 6 26123502 rs115740542 2019-02-08 30664745 Tachmazidou I 2019-01-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30664745 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. Osteoarthritis 77,052 European ancestry cases, 378,169 European ancestry controls NA 6p22.2 NR HIST1H2BC ENSG00000180596 rs115740542-C rs115740542 0 115740542 intron_variant 0 0.07 9E-9 8.045757490560675 1.06 [1.04-1.08] Affymetrix, Illumina [up to 17000000] (imputed) N 22 rs115740542 6 26123502 rs115740542 2019-02-08 30664745 Tachmazidou I 2019-01-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30664745 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. Osteoarthritis (hip) 15,704 European ancestry cases, 378,169 European ancestry controls NA 6p22.2 NR HIST1H2BC ENSG00000180596 rs115740542-C rs115740542 0 115740542 intron_variant 0 0.07 2E-8 7.698970004336019 1.13 [1.09-1.19] Affymetrix, Illumina [up to 17000000] (imputed) N 23 rs3129787 6 29117852 rs144649399 2017-08-16 28540026 Anney RJL 2017-05-22 Mol Autism www.ncbi.nlm.nih.gov/pubmed/28540026 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. Autism spectrum disorder or schizophrenia schizophrenia cases and controls (see Ripke, 2014), up to 6,197 European ancestry ASD cases, up to 7,377 European ancestry controls, up to 1,190 ASD cases, up to 1,190 controls NA 6p22.1 HCG14, LINC01556, LINC01623, LOC100129636, OR14J1, OR2B3, OR2J2, OR2J3, OR2W1, OR5V1, TRIM27, ZNF311 AL645937.1 - AL645937.4 ENSG00000203492 ENSG00000284656 7141 12400 rs144649399-? rs144649399 1 3129122 intergenic_variant 1 1E-12 12.0 1.1111112 [1.08-1.15] Affymetrix, Illumina [NR] N 23 rs3129787 6 29138315 rs3129151 2018-09-17 29844566 Davies G 2018-05-29 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29844566 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. General cognitive ability up to 300,486 European ancestry individuals NA 6p22.1 NR AL645937.4 - OR2J2 ENSG00000284656 ENSG00000226000 4337 369 rs3129151-? rs3129151 0 3129151 intergenic_variant 1 NR 7E-8 7.154901959985743 5.388 z-score increase Affymetrix, Illumina [at least 2500000] (imputed) N 24 rs35441607 6 45408440 rs6458443 2019-01-15 30320955 Baird DA 2018-10-15 J Bone Miner Res www.ncbi.nlm.nih.gov/pubmed/30320955 Identification of novel loci associated with hip shape: a meta-analysis of genome-wide association studies. Hip shape (DXA scan) 10,217 European ancestry individuals, 5,717 individuals NA 6p21.1 RUNX2 RUNX2 ENSG00000124813 rs6458443-T rs6458443 0 6458443 intron_variant 0 0.36 7E-9 8.154901959985743 (hip shape mode 1) 0.069 [0.045-0.093] unit decrease Illumina [7191926] (imputed) N 24 rs35441607 6 45456981 rs2396442 2017-09-05 28394258 Wild PS 2017-04-10 J Clin Invest www.ncbi.nlm.nih.gov/pubmed/28394258 Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. Left ventricle wall thickness 30,201 European ancestry individuals NA 6p21.1 NR RUNX2 ENSG00000124813 rs2396442-T rs2396442 0 2396442 intron_variant 0 0.6589 2E-6 5.698970004336019 0.0096 [0.0057-0.0135] unit decrease Affymetrix, Illumina [at least 283291] (imputed) N 25 rs34756237 6 96884886 rs11757063 2012-08-07 22683712 Freilinger T 2012-06-10 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22683712 Genome-wide association analysis identifies susceptibility loci for migraine without aura. Migraine 2,326 European ancestry cases, 4,580 European ancestry controls 2,508 European ancestry cases, 2,652 European ancestry controls 6q16.1 FHL5 UFL1-AS1 ENSG00000233797 rs11757063-A rs11757063 0 11757063 intron_variant 0 0.21 6E-8 7.221848749616356 1.2 [1.12-1.28] Illumina [1246388] (imputed) N 25 rs34756237 6 96885405 rs35410524 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Diastolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals NA 6q16.1 FUT9, UFL1 UFL1-AS1 ENSG00000233797 rs35410524-C rs35410524 0 35410524 intron_variant 0 1E-6 6.0 0.22 unit decrease Affymetrix [at least 2696785] (imputed) N 25 rs34756237 6 96885405 rs35410524 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Diastolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals NA 6q16.1 FUT9, UFL1 UFL1-AS1 ENSG00000233797 rs35410524-C rs35410524 0 35410524 intron_variant 0 9E-6 5.045757490560675 (EA) 0.217 unit decrease Affymetrix [at least 2696785] (imputed) N 25 rs34756237 6 96885405 rs35410524 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Pulse pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals NA 6q16.1 FUT9, UFL1 UFL1-AS1 ENSG00000233797 rs35410524-C rs35410524 0 35410524 intron_variant 0 4E-7 6.3979400086720375 0.166 unit decrease Affymetrix [at least 2696785] (imputed) N 25 rs34756237 6 96885405 rs35410524 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Systolic blood pressure 295,529 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 2,029 African British individuals, 7,701 East Asian ancestry individuals, 2,735 South Asian ancestry individuals, 1,979 mixed and unknown ancestry individuals NA 6q16.1 FUT9, UFL1 UFL1-AS1 ENSG00000233797 rs35410524-C rs35410524 0 35410524 intron_variant 0 5E-10 9.301029995663981 0.305 unit decrease Affymetrix [at least 2696785] (imputed) N 25 rs34756237 6 96885405 rs35410524 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Systolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals NA 6q16.1 FUT9, UFL1 UFL1-AS1 ENSG00000233797 rs35410524-C rs35410524 0 35410524 intron_variant 0 3E-8 7.522878745280337 0.385 unit decrease Affymetrix [at least 2696785] (imputed) N 25 rs34756237 6 96885405 rs35410524 2019-02-10 27841878 Hoffmann TJ 2016-11-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27841878 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. Systolic blood pressure 80,792 European ancestry individuals, 8,231 Latino individuals, 3,058 African American individuals, 7,243 East Asian ancestry individuals, 461 South Asian ancestry individuals NA 6q16.1 FUT9, UFL1 UFL1-AS1 ENSG00000233797 rs35410524-C rs35410524 0 35410524 intron_variant 0 5E-7 6.301029995663981 (EA) 0.377 unit decrease Affymetrix [at least 2696785] (imputed) N 25 rs34756237 6 96956137 rs11153018 2019-03-07 30578418 Giri A 2018-12-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30578418 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. Systolic blood pressure 365,998 European ancestry individuals, 63,490 African ancestry individuals, 22,802 Hispanic individuals, 4,792 Asian ancestry individuals, 2,695 Native American ancestry individuals 299,024 European ancestry individuals, 17,277 individuals 6q16.1 intergenic UFL1-AS1 ENSG00000233797 rs11153018-A rs11153018 0 11153018 intron_variant 0 0.1799 1E-11 11.0 0.304 [0.22-0.39] mmHg increase Affymetrix [NR] (imputed) N 25 rs34756237 6 97033370 rs3798293 2019-03-07 30578418 Giri A 2018-12-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30578418 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. Pulse pressure 365,998 European ancestry individuals, 63,490 African ancestry individuals, 22,802 Hispanic individuals, 4,792 Asian ancestry individuals, 2,695 Native American ancestry individuals 299,024 European ancestry individuals, 17,277 individuals 6q16.1 FHL5 FHL5 ENSG00000112214 rs3798293-G rs3798293 0 3798293 intron_variant 0 0.7952 6E-9 8.221848749616356 0.1884 [0.12-0.25] mmHg decrease Affymetrix [NR] (imputed) N 25 rs34756237 6 97039665 rs2971609 2017-07-21 28627999 Ikram MA 2017-06-19 J Cereb Blood Flow Metab www.ncbi.nlm.nih.gov/pubmed/28627999 Heritability and genome-wide associations studies of cerebral blood flow in the general population. Cerebral blood flow 4,472 Dutch individuals 1,350 Icelandic individuals 6q16.1 FHL5 FHL5 ENSG00000112214 rs2971609-? rs2971609 0 2971609 intron_variant 0 NR 3E-9 8.522878745280337 (right carotid flow velocity) Illumina [NR] N 25 rs34756237 6 97039741 rs11153071 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Systolic blood pressure approximately 422,000 European ancestry individuals NA 6q16.1 FHL5 ENSG00000112214 rs11153071-? rs11153071 0 11153071 intron_variant 0 NR 3E-15 14.522878745280337 NR [~ 8900000] (imputed) N 25 rs34756237 6 97060124 rs9486719 2017-05-11 27182965 Pickrell JK 2016-05-16 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27182965 Detection and interpretation of shared genetic influences on 42 human traits. Migraine 53,109 European ancestry cases, 230,876 European ancestry controls NA 6q16.1 FHL5 FHL5 ENSG00000112214 rs9486719-? rs9486719 0 9486719 intron_variant 0 NR 6E-21 20.221848749616356 1.091703 [1.07-1.11] Illumina [13763073] (imputed) N 25 rs34756237 6 97060124 rs9486719 2018-01-29 29212778 van der Harst P 2017-12-06 Circ Res www.ncbi.nlm.nih.gov/pubmed/29212778 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. Coronary artery disease 88,192 cases, 162,544 controls 34,541 cases, 261,984 controls 6q16.1 FHL5 FHL5 ENSG00000112214 rs9486719-A rs9486719 0 9486719 intron_variant 0 0.2014 2E-7 6.698970004336019 0.0413 [0.026-0.057] unit decrease NR [8041861] (imputed) N 25 rs34756237 6 97065212 rs11759769 2014-01-08 23793025 Anttila V 2013-06-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/23793025 Genome-wide meta-analysis identifies new susceptibility loci for migraine. Migraine 23,285 European ancestry cases, 95,425 European ancestry controls NA 6q16.1 FHL5 FHL5 - RPS7P8 ENSG00000112214 ENSG00000213183 700 31153 rs11759769-A rs11759769 0 11759769 intergenic_variant 1 0.22 1E-11 11.0 1.1 [1.07-1.13] Affymetrix, Illumina [~ 2300000] (imputed) N 25 rs34756237 6 97065212 rs11759769 2014-01-08 23793025 Anttila V 2013-06-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/23793025 Genome-wide meta-analysis identifies new susceptibility loci for migraine. Migraine - clinic-based 5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls NA 6q16.1 FHL5 FHL5 - RPS7P8 ENSG00000112214 ENSG00000213183 700 31153 rs11759769-A rs11759769 0 11759769 intergenic_variant 1 0.22 4E-7 6.3979400086720375 1.16 [1.09-1.23] Affymetrix, Illumina [~ 2300000] (imputed) N 25 rs34756237 6 97065212 rs11759769 2014-01-08 23793025 Anttila V 2013-06-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/23793025 Genome-wide meta-analysis identifies new susceptibility loci for migraine. Migraine without aura 7,107 European ancestry cases, 69,427 European ancestry controls NA 6q16.1 FHL5 FHL5 - RPS7P8 ENSG00000112214 ENSG00000213183 700 31153 rs11759769-A rs11759769 0 11759769 intergenic_variant 1 0.22 2E-12 11.698970004336019 1.18 [1.13-1.24] Affymetrix, Illumina [~ 2300000] (imputed) N 26 rs35193008 6 151016058 rs275350 2019-03-15 30659137 Traylor M 2019-01-18 Neurology www.ncbi.nlm.nih.gov/pubmed/30659137 Genetic variation in PLEKHG1 is associated with white matter hyperintensities (n = 11,226). White matter hyperintensity volume 8,429 European ancestry individuals, 2,797 European ancestry individuals with ischemic stroke 1,202 European ancestry individuals 6q25.1 PLEKHG1 PLEKHG1 ENSG00000120278 rs275350-C rs275350 0 275350 intron_variant 0 0.57 2E-9 8.698970004336019 0.071 [0.046-0.096] unit increase Affymetrix, Illumina [at least 39131578] (imputed) N 27 rs34320599 7 2752152 rs798565 2019-05-01 30804561 Sakornsakolpat P 2019-02-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30804561 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. Chronic obstructive pulmonary disease 35,735 cases, 222,076 controls NA 7p22.3 AMZ1 AMZ1 ENSG00000174945 rs798565-G rs798565 0 798565 synonymous_variant 0 0.71 4E-9 8.397940008672037 1.07 [1.04-1.09] Affymetrix, Illumina [6224355] (imputed) N 27 rs34320599 7 2759473 rs798555 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. White blood cell count approximately 444,000 European ancestry individuals NA 7p22.3 AMZ1 ENSG00000174945 rs798555-? rs798555 0 798555 intron_variant 0 NR 7E-20 19.154901959985743 NR [~ 8900000] (imputed) N 27 rs34320599 7 2759795 rs798554 2013-09-12 23563607 Berndt SI 2013-04-07 Nat Genet www.ncbi.nlm.nih.gov/pubmed/23563607 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Height 8,097 European ancestry tall individuals, 8,099 European ancestry short individuals 4,872 European ancestry tall individuals, 4,831 European ancestry short individuals 7p22.3 AMZ1 AMZ1 ENSG00000174945 rs798554-C rs798554 0 798554 intron_variant 0 0.68 4E-23 22.397940008672037 1.24 [NR] Affymetrix, Illumina [~ 2800000] (imputed) N 27 rs34320599 7 2762386 rs798545 2019-01-28 30598549 Morris JA 2018-12-31 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30598549 An atlas of genetic influences on osteoporosis in humans and mice. Heel bone mineral density 426,824 British ancestry individuals NA 7p22.3 AMZ1 AMZ1 ENSG00000174945 rs798545-C rs798545 0 798545 intron_variant 0 0.700607 2E-9 8.698970004336019 0.0120008 [0.0081-0.0159] unit decrease NR [13737936] (imputed) N 27 rs34320599 7 2763102 rs798544 2008-07-01 18391951 Gudbjartsson DF 2008-04-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/18391951 Many sequence variants affecting diversity of adult human height. Height 30,968 European ancestry individuals 8,541 European ancestry individuals 7p22.3 GNA12 AMZ1 ENSG00000174945 rs798544-G rs798544 0 798544 intron_variant 0 0.72 7E-15 14.154901959985743 5.9 [6.03-8.77] % s.d. increase Affymetrix, Illumina [up to 304226] N 27 rs34320599 7 2763102 rs798544 2018-10-18 30048462 Kim SK 2018-07-26 PLoS One www.ncbi.nlm.nih.gov/pubmed/30048462 Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture. Heel bone mineral density 394,929 European ancestry individuals NA 7p22.3 AMZ1 ENSG00000174945 rs798544-? rs798544 0 798544 intron_variant 0 NR 2E-10 9.698970004336019 0.0139664 [0.0096-0.0184] unit decrease Affymetrix [20259828] (imputed) N 27 rs34320599 7 2763102 rs798544 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Heel bone mineral density approximately 446,000 European ancestry individuals NA 7p22.3 AMZ1 ENSG00000174945 rs798544-? rs798544 0 798544 intron_variant 0 NR 1E-15 15.0 NR [~ 8900000] (imputed) N 27 rs34320599 7 2772431 rs798528 2017-05-23 25673412 Shungin D 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673412 New genetic loci link adipose and insulin biology to body fat distribution. Hip circumference up to 56,910 European ancestry men, up to 86,570 European ancestry women up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African American/Afro-Caribbean ancestry men, 6,258 African American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798528-A rs798528 0 798528 intron_variant 0 0.6847 2E-8 7.698970004336019 (EA) 0.0212 [0.014-0.029] unit increase Affymetrix, Illumina, Perlegen [up to 2542447] (imputed) N 27 rs34320599 7 2772431 rs798528 2017-05-23 25673412 Shungin D 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673412 New genetic loci link adipose and insulin biology to body fat distribution. Hip circumference up to 56,910 European ancestry men, up to 86,570 European ancestry women up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African American/Afro-Caribbean ancestry men, 6,258 African American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798528-A rs798528 0 798528 intron_variant 0 0.6847 9E-6 5.045757490560675 (EA, men) 0.0234 [0.013-0.034] unit increase Affymetrix, Illumina, Perlegen [up to 2542447] (imputed) N 27 rs34320599 7 2775542 rs798526 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Lung function (FEV1/FVC) approximately 370,000 European ancestry individuals NA 7p22.3 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798526-? rs798526 0 798526 intron_variant 0 NR 2E-16 15.698970004336019 NR [~ 8900000] (imputed) N 27 rs34320599 7 2789880 rs798502 2011-03-29 21297633 Anderson CA 2011-02-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/21297633 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Ulcerative colitis 6,687 European ancestry cases, 19,718 European ancestry controls 9,628 European ancestry cases, 12,917 European ancestry controls 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-A rs798502 0 798502 intron_variant 0 0.71 3E-15 14.522878745280337 1.13 [1.08-1.18] Affymetrix, Illumina [~ 1100000] (imputed) N 27 rs34320599 7 2789880 rs798502 2013-02-12 23128233 Jostins L 2012-11-01 Nature www.ncbi.nlm.nih.gov/pubmed/23128233 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Ulcerative colitis Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls 7p22.3 GNA12, CARD11, TTYH3 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-A rs798502 0 798502 intron_variant 0 0.709 6E-17 16.221848749616356 1.127 [1.084-1.171] Affymetrix, Illumina [1230000] (imputed) N 27 rs34320599 7 2789880 rs798502 2017-05-23 25673412 Shungin D 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673412 New genetic loci link adipose and insulin biology to body fat distribution. Waist circumference adjusted for body mass index up to 56,910 European ancestry men, up to 86,570 European ancestry women up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African American/Afro-Caribbean ancestry men, 6,258 African American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-A rs798502 0 798502 intron_variant 0 0.6955 1E-10 10.0 (EA, men) 0.0331 [0.023-0.043] unit increase Affymetrix, Illumina, Perlegen [up to 2542447] (imputed) N 27 rs34320599 7 2789880 rs798502 2017-05-23 25673412 Shungin D 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673412 New genetic loci link adipose and insulin biology to body fat distribution. Waist circumference adjusted for body mass index up to 56,910 European ancestry men, up to 86,570 European ancestry women up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African American/Afro-Caribbean ancestry men, 6,258 African American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-A rs798502 0 798502 intron_variant 0 0.6955 3E-11 10.522878745280337 (EA) 0.0243 [0.017-0.032] unit increase Affymetrix, Illumina, Perlegen [up to 2542447] (imputed) N 27 rs34320599 7 2789880 rs798502 2017-06-02 28067908 de Lange KM 2017-01-09 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28067908 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. Inflammatory bowel disease 25,042 European and unknown ancestry cases, 34,915 European and unknown ancestry controls NA 7p22.3 AMZ1, GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-? rs798502 0 798502 intron_variant 0 2E-7 6.698970004336019 Illumina [9725440] (imputed) N 27 rs34320599 7 2789880 rs798502 2017-06-02 28067908 de Lange KM 2017-01-09 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28067908 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. Ulcerative colitis 12,366 European and unknown ancestry cases, 33,609 European and unknown ancestry controls NA 7p22.3 AMZ1, GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-? rs798502 0 798502 intron_variant 0 4E-11 10.397940008672037 Illumina [9578670] (imputed) N 27 rs34320599 7 2789880 rs798502 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Waist circumference adjusted for BMI (adjusted for smoking behaviour) 97,400 European ancestry women, 63,892 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/Latino ancestry women, 1,764 Hispanic/Latino ancestry men 21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-A rs798502 0 798502 intron_variant 0 0.7108 2E-7 6.698970004336019 (men) 0.0298 [0.019-0.041] unit increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 27 rs34320599 7 2789880 rs798502 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) 97,400 European ancestry women, 63,892 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/Latino ancestry women, 1,764 Hispanic/Latino ancestry men 21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-A rs798502 0 798502 intron_variant 0 0.7108 1E-6 6.0 (men) Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 27 rs34320599 7 2789880 rs798502 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) 97,400 European ancestry women, 63,892 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/Latino ancestry women, 1,764 Hispanic/Latino ancestry men 21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-A rs798502 0 798502 intron_variant 0 0.7108 6E-6 5.221848749616356 Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 27 rs34320599 7 2789880 rs798502 2017-08-10 28443625 Justice AE 2017-04-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28443625 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Waist circumference adjusted for BMI in non-smokers 77,113 European ancestry women, 47,319 European ancestry men, 4,856 European ancestry individuals, 8,799 African American/Afro-Caribbean ancestry women, 1,803 African American/Afro-Caribbean ancestry men, 1,020 Indian Asian ancestry women, 6,691 Indian Asian ancestry men, 1,526 Filipino ancestry women, 2,469 Hispanic/Latino ancestry women, 1,318 Hispanic/Latino ancestry men 16,011 European ancestry women, 17,912 European ancestry men, 105,218 European ancestry individuals, 2,073 African American/Afro-Caribbean ancestry women, 647 African American/Afro-Caribbean ancestry men 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798502-A rs798502 0 798502 intron_variant 0 0.7108 3E-6 5.522878745280337 (men) 0.0309 [0.018-0.044] unit increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 27 rs34320599 7 2795957 rs798497 2010-03-25 20189936 Okada Y 2010-02-26 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/20189936 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. Height 19,633 Japanese ancestry individuals NA 7p22.3 GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798497-G rs798497 0 798497 intron_variant 0 0.27 7E-7 6.154901959985743 0.06 [0.04-0.08] cm decrease Illumina [420885] N 27 rs34320599 7 2795957 rs798497 2015-09-24 25282103 Wood AR 2014-10-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/25282103 Defining the role of common variation in the genomic and biological architecture of adult human height. Height 253,288 European ancestry individuals 80,067 European ancestry individuals 7p22.3 GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798497-A rs798497 0 798497 intron_variant 0 0.698 2E-71 70.69897000433602 0.057 [0.051-0.063] unit increase Affymetrix, Illumina, Perlegen [2550858] (imputed) N 27 rs34320599 7 2795957 rs798497 2017-05-23 25673412 Shungin D 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673412 New genetic loci link adipose and insulin biology to body fat distribution. Hip circumference adjusted for BMI up to 56,910 European ancestry men, up to 86,570 European ancestry women up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African American/Afro-Caribbean ancestry men, 6,258 African American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women 7p22.3 GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798497-A rs798497 0 798497 intron_variant 0 0.6907 1E-10 10.0 (EA, women) 0.0316 [0.022-0.041] unit increase Affymetrix, Illumina, Perlegen [up to 2542447] (imputed) N 27 rs34320599 7 2795957 rs798497 2017-05-23 25673412 Shungin D 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673412 New genetic loci link adipose and insulin biology to body fat distribution. Hip circumference adjusted for BMI up to 56,910 European ancestry men, up to 86,570 European ancestry women up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African American/Afro-Caribbean ancestry men, 6,258 African American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women 7p22.3 GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798497-A rs798497 0 798497 intron_variant 0 0.6907 4E-20 19.397940008672037 (EA) 0.0354 [0.028-0.043] unit increase Affymetrix, Illumina, Perlegen [up to 2542447] (imputed) N 27 rs34320599 7 2795957 rs798497 2017-05-23 25673412 Shungin D 2015-02-12 Nature www.ncbi.nlm.nih.gov/pubmed/25673412 New genetic loci link adipose and insulin biology to body fat distribution. Hip circumference adjusted for BMI up to 56,910 European ancestry men, up to 86,570 European ancestry women up to 36,570 European ancestry men, 30,172 European ancestry women, 915 Filipino ancestry men, 735 Filipino ancestry women, 2,351 African American/Afro-Caribbean ancestry men, 6,258 African American/Afro-Caribbean ancestry women, 2,285 South Asian ancestry men, 506 South Asian ancestry women, 195 Seychellois ancestry men, 266 Seychellois ancestry women 7p22.3 GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798497-A rs798497 0 798497 intron_variant 0 0.6907 7E-13 12.154901959985743 (EA,men) 0.0395 [0.029-0.05] unit increase Affymetrix, Illumina, Perlegen [up to 2542447] (imputed) N 27 rs34320599 7 2800521 rs798491 2019-03-13 30664634 Rask-Andersen M 2019-01-21 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30664634 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. Body fat distribution (leg fat ratio) 55,006 British ancestry males, 61,132 British ancestry females 112,425 British ancestry males, 133,936 British ancestry females 7p22.3 AMZ1, GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798491-G rs798491 0 798491 intron_variant 0 0.291624 1E-8 8.0 (males) 0.02099 NR unit increase (replication) Affymetrix [25472837] (imputed) N 27 rs34320599 7 2800521 rs798491 2019-03-13 30664634 Rask-Andersen M 2019-01-21 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30664634 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. Body fat distribution (leg fat ratio) 55,006 British ancestry males, 61,132 British ancestry females 112,425 British ancestry males, 133,936 British ancestry females 7p22.3 AMZ1, GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798491-G rs798491 0 798491 intron_variant 0 0.291624 3E-40 39.52287874528034 0.03362 NR unit increase (replication) Affymetrix [25472837] (imputed) N 27 rs34320599 7 2800521 rs798491 2019-03-13 30664634 Rask-Andersen M 2019-01-21 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30664634 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. Body fat distribution (leg fat ratio) 55,006 British ancestry males, 61,132 British ancestry females 112,425 British ancestry males, 133,936 British ancestry females 7p22.3 AMZ1, GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798491-G rs798491 0 798491 intron_variant 0 0.291624 4E-37 36.39794000867204 (females) 0.0438 NR unit increase (replication) Affymetrix [25472837] (imputed) N 27 rs34320599 7 2800521 rs798491 2019-03-13 30664634 Rask-Andersen M 2019-01-21 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30664634 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. Body fat distribution (trunk fat ratio) 55,006 British ancestry males, 61,132 British ancestry females 112,425 British ancestry males, 133,936 British ancestry females 7p22.3 AMZ1, GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798491-G rs798491 0 798491 intron_variant 0 0.291624 1E-38 38.0 0.03345 NR unit decrease (replication) Affymetrix [25472837] (imputed) N 27 rs34320599 7 2800521 rs798491 2019-03-13 30664634 Rask-Andersen M 2019-01-21 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30664634 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. Body fat distribution (trunk fat ratio) 55,006 British ancestry males, 61,132 British ancestry females 112,425 British ancestry males, 133,936 British ancestry females 7p22.3 AMZ1, GNA12 GNA12, AMZ1 ENSG00000146535, ENSG00000174945 rs798491-G rs798491 0 798491 intron_variant 0 0.291624 3E-43 42.52287874528034 (females) 0.04779 NR unit decrease (replication) Affymetrix [25472837] (imputed) N 27 rs34320599 7 2801803 rs798489 2012-10-24 20881960 Lango Allen H 2010-09-29 Nature www.ncbi.nlm.nih.gov/pubmed/20881960 Hundreds of variants clustered in genomic loci and biological pathways affect human height. Height 133,653 European ancestry individuals 50,074 European ancestry individuals 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-T rs798489 0 798489 splice_donor_variant 0 0.3 2E-33 32.69897000433602 0.048 [NR] unit decrease Affymetrix, Illumina [2834208] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-? rs798489 0 798489 splice_donor_variant 0 0.7105 2E-7 6.698970004336019 (EA, men) Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-? rs798489 0 798489 splice_donor_variant 0 0.7105 7E-7 6.154901959985743 (EA) Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-? rs798489 0 798489 splice_donor_variant 0 0.7155 4E-7 6.3979400086720375 Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-? rs798489 0 798489 splice_donor_variant 0 0.7155 6E-8 7.221848749616356 (men) Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-? rs798489 0 798489 splice_donor_variant 0 0.7155 8E-7 6.096910013008056 (women) Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI in active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,139 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,100 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7093 3E-6 5.522878745280337 (EA, men) 0.0318 [0.018-0.045] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI in active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,139 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,100 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7105 3E-6 5.522878745280337 (EA) 0.0223 [0.013-0.032] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI in active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,139 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,100 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7130000000000001 1E-6 6.0 (men) 0.0329 [0.02-0.046] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI in active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,139 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,100 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7155 2E-6 5.698970004336019 0.0222 [0.013-0.031] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for BMI in active individuals 1,957 African American women, 1,773 Filipino ancestry women, 305 Indian ancestry women, 67,139 European ancestry women, 1,206 African American men, 2,029 Indian ancestry men, 43,100 European ancestry men, at least 4,819 European ancestry individuals 4,807 African American women, 12,347 European ancestry women, 265 African American men, 14,540 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7166 7E-6 5.154901959985743 (women) 0.0308 [0.017-0.044] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for body mass index 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7105 5E-8 7.301029995663981 (EA, men) 0.0337 [0.022-0.046] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for body mass index 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7105 9E-8 7.045757490560675 (EA) 0.0222 [0.014-0.03] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for body mass index 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7155 1E-7 7.0 (women) 0.0318 [0.02-0.044] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for body mass index 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7155 2E-8 7.698970004336019 (men) 0.0342 [0.022-0.046] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2017-08-18 28448500 Graff M 2017-04-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28448500 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. Waist circumference adjusted for body mass index 2,518 African American women, 85,730 European ancestry women, 1,773 Filipino ancestry women, 1,030 Indian ancestry women, 1,457 African American men, 54,792 European ancestry men, 7,648 Indian ancestry men, 5,527 European ancestry individuals 6,244 African American women, 17,531 European ancestry women, 329 African American men, 19,956 European ancestry men 7p22.3 AMZ1 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.7155 8E-8 7.096910013008056 0.0221 [0.014-0.03] cm increase Affymetrix, Illumina, Perlegen [~ 2500000] (imputed) N 27 rs34320599 7 2801803 rs798489 2018-01-15 27680694 Horikoshi M 2016-10-13 Nature www.ncbi.nlm.nih.gov/pubmed/27680694 Genome-wide associations for birth weight and correlations with adult disease. Birth weight 133,903 European ancestry individuals, 6,635 African American individuals, 420 Turkish ancestry individuals, 365 Moroccan ancestry individuals, 395 Surinamese ancestry individuals, 840 Chinese ancestry individuals. 9,799 European ancestry individuals, 1,449 Filipino ancestry individuals. 7p22.3 GNA12 AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs798489-C rs798489 0 798489 splice_donor_variant 0 0.73 5E-9 8.301029995663981 0.024 [0.016-0.032] unit increase Affymetrix, Illumina [at least 22434434] (imputed) N 27 rs34320599 7 2812632 rs35957220 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Fat-free mass 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 7p22.3 NR AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs35957220-? rs35957220 0 35957220 intron_variant 0 NR 2E-17 16.69897000433602 (male) 0.32233 [0.25-0.4] unit decrease Affymetrix [7794483] (imputed) N 27 rs34320599 7 2812632 rs35957220 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Fat-free mass 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 7p22.3 NR AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs35957220-? rs35957220 0 35957220 intron_variant 0 NR 5E-25 24.30102999566398 0.2482 [0.2-0.3] unit decrease Affymetrix [7794483] (imputed) N 27 rs34320599 7 2812632 rs35957220 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Fat-free mass 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 7p22.3 NR AMZ1, GNA12 ENSG00000174945, ENSG00000146535 rs35957220-? rs35957220 0 35957220 intron_variant 0 NR 7E-9 8.154901959985743 (female) 0.15247 [0.1-0.2] unit decrease Affymetrix [7794483] (imputed) N 27 rs34320599 7 2841164 rs2644312 2017-05-11 27182965 Pickrell JK 2016-05-16 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27182965 Detection and interpretation of shared genetic influences on 42 human traits. Tonsillectomy 60,098 European ancestry cases, 113,323 European ancestry controls NA 7p22.2 GNA12 GNA12 ENSG00000146535 rs2644312-? rs2644312 0 2644312 intron_variant 0 NR 3E-11 10.522878745280337 1.061 [1.043-1.080] Illumina [13757430] (imputed) N 27 rs34320599 7 2841164 rs2644312 2017-12-01 28928442 Tian C 2017-09-19 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28928442 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections. Tonsillectomy 60,098 European ancestry cases, 113,323 European ancestry controls NA 7p22.2 GNA12 GNA12 ENSG00000146535 rs2644312-G rs2644312 0 2644312 intron_variant 0 0.71 3E-11 10.522878745280337 1.06 [1.05-1.07] Illumina [at least 560000] (imputed) N 27 rs34320599 7 2869985 rs1182188 2009-04-22 19343178 Soranzo N 2009-04-03 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/19343178 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. Height 12,611 European ancestry individuals 7,187 European ancestry individuals 7p22.2 GNA12 GNA12 ENSG00000146535 rs1182188-? rs1182188 0 1182188 intron_variant 0 0.27 3E-9 8.522878745280337 0.07 [0.04-0.10] s.d. increase Illumina [229216] N 27 rs34320599 7 2869985 rs1182188 2016-07-24 26192919 Liu JZ 2015-07-20 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26192919 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Inflammatory bowel disease 12,882 European ancestry cases, 21,770 European ancestry controls 25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,423 Indian ancestry cases, 990 Indian ancestry controls, 2,824 East Asian ancestry cases, 3,719 East Asian ancestry controls 7p22.2 NR GNA12 ENSG00000146535 rs1182188-A rs1182188 0 1182188 intron_variant 0 0.7 1E-9 9.0 (EA) 1.068123 Affymetrix, Illumina [~ 9000000] (imputed) N 27 rs34320599 7 2869985 rs1182188 2016-07-24 26192919 Liu JZ 2015-07-20 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26192919 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. Ulcerative colitis 6,968 European ancestry cases, 20,464 European ancestry controls 10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1,239 Indian ancestry cases, 990 Indian ancestry controls, 1,134 East Asian ancestry cases, 3,719 East Asian ancestry controls 7p22.2 NR GNA12 ENSG00000146535 rs1182188-A rs1182188 0 1182188 intron_variant 0 0.7 5E-15 14.301029995663981 (EA) 1.1136187 Affymetrix, Illumina [~ 9000000] (imputed) N 27 rs34320599 7 2869985 rs1182188 2018-04-26 26974007 Ellinghaus D 2016-03-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26974007 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) 8,726 European ancestry ankylosing spondylitis cases, 19,085 European ancestry Crohn’s disease cases, 6,530 European ancestry psoriasis cases, 3,408 European ancestry primary sclerosing cholangitis cases, 14,513 European ancestry ulcerative colitis cases, 34,213 European ancestry controls NA 7p22.2 GNA12 GNA12 ENSG00000146535 rs1182188-? rs1182188 0 1182188 intron_variant 0 NR 4E-11 10.397940008672037 (subset analysis) Illumina [130052] N 28 rs10237149 7 18891259 rs13245206 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Hair color approximately 452,000 European ancestry individuals NA 7p21.1 HDAC9 ENSG00000048052 rs13245206-? rs13245206 0 13245206 intron_variant 0 NR 6E-14 13.221848749616356 NR [~ 8900000] (imputed) N 28 rs10237149 7 18896988 rs71530654 2018-01-12 29146897 Pirastu N 2017-11-17 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29146897 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. Male-pattern baldness 25,662 British ancestry cases, 17,928 British ancestry controls 13,367 European ancestry cases, 11,851 European ancestry controls, 3,436 cases, 2,435 controls 7p21.1 TWIST1 HDAC9 ENSG00000048052 rs71530654-A rs71530654 0 71530654 intron_variant 0 NR 7E-63 62.15490195998574 0.241923 [0.21-0.27] unit increase Affymetrix [27512692] (imputed) N 28 rs10237149 7 18896988 rs71530654 2018-12-03 28196072 Hagenaars SP 2017-02-14 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28196072 Genetic prediction of male pattern baldness. Male-pattern baldness 52,874 British ancestry males 7p21.1 HDAC9 HDAC9 ENSG00000048052 rs71530654-G rs71530654 0 71530654 intron_variant 0 NR 5E-70 69.30102999566398 0.112465 NR unit increase NR [NR] (imputed) N 28 rs10237149 7 18897511 rs7801037 2017-05-11 27182965 Pickrell JK 2016-05-16 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27182965 Detection and interpretation of shared genetic influences on 42 human traits. Male-pattern baldness 9,009 European ancestry cases, 8,491 European ancestry controls NA 7p21.1 HDAC9 HDAC9 ENSG00000048052 rs7801037-? rs7801037 0 7801037 intron_variant 0 NR 1E-36 36.0 1.3333333 [1.27-1.39] Illumina [13436641] (imputed) N 28 rs10237149 7 18897511 rs7801037 2018-12-03 28196072 Hagenaars SP 2017-02-14 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28196072 Genetic prediction of male pattern baldness. Male-pattern baldness 52,874 British ancestry males 7p21.1 NR HDAC9 ENSG00000048052 rs7801037-A rs7801037 0 7801037 intron_variant 0 NR 8E-68 67.09691001300806 0.11 NR unit increase NR [NR] (imputed) N 28 rs10237149 7 18899163 rs67248060 2019-02-01 30573740 Yap CX 2018-12-20 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30573740 Dissection of genetic variation and evidence for pleiotropy in male pattern baldness. Male-pattern baldness 205,327 European ancestry males NA 7p21.1 NR HDAC9 ENSG00000048052 rs67248060-T rs67248060 0 67248060 intron_variant 0 0.36528 3E-283 282.52287874528037 0.116231 [0.11-0.12] unit increase NR [19129689] (imputed) N 28 rs10237149 7 18899163 rs67248060 2019-02-06 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Balding type 1 approximately 208,000 European ancestry individuals NA 7p21.1 HDAC9 ENSG00000048052 rs67248060-? rs67248060 0 67248060 intron_variant 0 NR 2E-146 145.69897000433602 NR [~ 8900000] (imputed) N 28 rs10237149 7 18911789 rs6951144 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Lung function (FVC) approximately 372,000 European ancestry individuals NA 7p21.1 HDAC9 ENSG00000048052 rs6951144-? rs6951144 0 6951144 intron_variant 0 NR 2E-8 7.698970004336019 NR [~ 8900000] (imputed) N 29 rs74504435 7 54916280 rs75061358 2016-10-10 26424050 Kinnersley B 2015-10-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26424050 Genome-wide association study identifies multiple susceptibility loci for glioma. Glioblastoma 1,783 Northern European ancestry cases, 7,435 Northern European ancestry controls up to 1,490 European ancestry cases, up to 1,723 European ancestry controls 7p11.2 NR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 6E-11 10.221848749616356 1.59 [1.39-1.83] Illumina [at least 8427548] (imputed) N 29 rs74504435 7 54916280 rs75061358 2016-10-12 26424050 Kinnersley B 2015-10-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26424050 Genome-wide association study identifies multiple susceptibility loci for glioma. Glioma 1,783 Northern European ancestry glioblastoma cases, 2,364 Northern European ancestry non-glioblastoma cases, 7,435 Northern European ancestry controls 1,490 European ancestry cases, 1,723 European ancestry control 7p11.2 NR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 2E-11 10.698970004336019 1.42 [1.28-1.57] Illumina [at least 8427548] (imputed) N 29 rs74504435 7 54916280 rs75061358 2016-10-12 26424050 Kinnersley B 2015-10-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26424050 Genome-wide association study identifies multiple susceptibility loci for glioma. Non-glioblastoma glioma 2,364 Northern European ancestry cases, 7,435 Northern European ancestry controls up to 1,490 European ancestry cases, up to 1,723 European ancestry controls 7p11.2 NR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 3E-6 5.522878745280337 1.36 [1.20-1.55] Illumina [at least 8427548] (imputed) N 29 rs74504435 7 54916280 rs75061358 2017-07-13 28346443 Melin BS 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346443 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Glioblastoma 6,191 European ancestry cases, 18,190 European ancestry controls. NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 0.099 5E-34 33.30102999566398 1.63 1.50-1.76 Illumina [at least 6790270] (imputed) N 29 rs74504435 7 54916280 rs75061358 2017-07-13 28346443 Melin BS 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346443 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Glioma 12,469 European ancestry cases, 18,190 European ancestry controls. NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 0.099 4E-27 26.397940008672037 1.42 1.33-1.52 Illumina [at least 6887412] (imputed) N 29 rs74504435 7 54916280 rs75061358 2017-07-13 28346443 Melin BS 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346443 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Non-glioblastoma glioma 5,819 European ancestry cases, 18,190 European ancestry controls. NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 0.099 2E-8 7.698970004336019 1.28 1.18-1.40 Illumina [at least 6769856] (imputed) N 29 rs74504435 7 54916280 rs75061358 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Glioblastoma 2,835 European ancestry male cases, 1,682 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 1E-11 11.0 (females) 1.68 [1.45-1.96] Affymetrix, Illumina [NR] (imputed) N 29 rs74504435 7 54916280 rs75061358 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Glioblastoma 2,835 European ancestry male cases, 1,682 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 3E-16 15.522878745280337 (males) 1.65 [1.46-1.86] Affymetrix, Illumina [NR] (imputed) N 29 rs74504435 7 54916280 rs75061358 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Glioma 4,831 European ancestry male cases, 3,206 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 2E-9 8.698970004336019 (females) 1.46 [1.29-1.66] Affymetrix, Illumina [NR] (imputed) N 29 rs74504435 7 54916280 rs75061358 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Glioma 4,831 European ancestry male cases, 3,206 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 7E-12 11.154901959985743 (males) 1.43 [1.29-1.59] Affymetrix, Illumina [NR] (imputed) N 29 rs74504435 7 54916280 rs75061358 2018-11-01 30152087 Ostrom QT 2018-08-27 Int J Cancer www.ncbi.nlm.nih.gov/pubmed/30152087 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. Glioblastoma (age-stratified) 1,533 cases diagnosed below median age, 1,476 cases diagnosed at median age, 1,503 cases diagnosed above median age, 10,582 controls, NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 2E-12 11.698970004336019 (Median age-at-diagnosis) 1.7 [1.47-1.97] NR [NR] (imputed) N 29 rs74504435 7 54916280 rs75061358 2018-11-01 30152087 Ostrom QT 2018-08-27 Int J Cancer www.ncbi.nlm.nih.gov/pubmed/30152087 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. Glioblastoma (age-stratified) 1,533 cases diagnosed below median age, 1,476 cases diagnosed at median age, 1,503 cases diagnosed above median age, 10,582 controls, NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 4E-16 15.397940008672037 (Above median age-at-diagnosis) 1.85 [1.60-2.15] NR [NR] (imputed) N 29 rs74504435 7 54916280 rs75061358 2018-11-01 30152087 Ostrom QT 2018-08-27 Int J Cancer www.ncbi.nlm.nih.gov/pubmed/30152087 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. Glioblastoma (age-stratified) 1,533 cases diagnosed below median age, 1,476 cases diagnosed at median age, 1,503 cases diagnosed above median age, 10,582 controls, NA 7p11.2 EGFR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 43659 85112 rs75061358-G rs75061358 0 75061358 intergenic_variant 1 NR 7E-12 11.154901959985743 (Below median age-at-diagnosis) 1.67 [1.44-1.94] NR [NR] (imputed) N 29 rs74504435 7 54949256 rs74504435 2019-03-18 30643256 Baselmans BML 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643256 Multivariate genome-wide analyses of the well-being spectrum. Well-being spectrum (multivariate analysis) 2,083,151 European ancestry individuals 287,239 European ancestry individuals 7p11.2 NR AC074351.1 - AC006971.1 ENSG00000234707 ENSG00000218586 76635 52136 rs74504435-G rs74504435 0 74504435 regulatory_region_variant 1 0.101869461696237 2E-8 7.698970004336019 0.008569431 [0.0056-0.0115] unit decrease NR [NR] N 31 rs1917486 7 96308943 rs2272224 2019-01-28 30598549 Morris JA 2018-12-31 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30598549 An atlas of genetic influences on osteoporosis in humans and mice. Heel bone mineral density 426,824 British ancestry individuals NA 7q21.3 SEM1 SEM1 ENSG00000127922 rs2272224-T rs2272224 0 2272224 intron_variant 0 0.730722 4E-14 13.397940008672037 0.0166811 [0.012-0.021] unit decrease NR [13737936] (imputed) N 32 rs3801383 7 120966790 rs3779381 2017-07-14 28472463 Mullin BH 2017-05-04 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28472463 Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation. Bone ultrasound measurement (velocity of sound) 1,268 whole genome sequenced European ancestry women, 8,880 European ancestry women, 6,479 European ancestry men NA 7q31.31 WNT16 WNT16 ENSG00000002745 rs3779381-G rs3779381 0 3779381 intron_variant 0 0.25 1E-21 21.0 (male) 0.19 [0.15-0.23] unit increase Illumina [11973598] (imputed) N 32 rs3801383 7 120966790 rs3779381 2018-07-04 29499414 Pei YF 2018-02-27 Bone www.ncbi.nlm.nih.gov/pubmed/29499414 Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density. Femoral neck bone mineral density up to 4,692 European ancestry individuals, up to 1,539 Han Chinese ancestry individuals, up to 849 African American individuals, up to 446 Hispanic individuals, 2,882 European ancestry whole-genome sequenced individuals, 3,549 European ancestry whole-exome sequenced individuals, 26,534 European ancestry non-array genotype imputed individuals NA 7q31.31 WNT16 WNT16 ENSG00000002745 rs3779381-A rs3779381 0 3779381 intron_variant 0 0.742765 1E-14 14.0 0.0605 [0.045-0.076] unit decrease Affymetrix, Illumina [7998108] (imputed) N 32 rs3801383 7 120966790 rs3779381 2018-07-04 29499414 Pei YF 2018-02-27 Bone www.ncbi.nlm.nih.gov/pubmed/29499414 Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density. Lumbar spine bone mineral density up to 4,692 European ancestry individuals, up to 1,539 Han Chinese ancestry individuals, up to 849 African American individuals, up to 446 Hispanic individuals, 2,882 European ancestry whole-genome sequenced individuals, 3,549 European ancestry whole-exome sequenced individuals, 26,534 European ancestry non-array genotype imputed individuals NA 7q31.31 WNT16 WNT16 ENSG00000002745 rs3779381-A rs3779381 0 3779381 intron_variant 0 0.742765 1E-18 18.0 0.0782 [0.061-0.096] unit decrease Affymetrix, Illumina [7998108] (imputed) N 32 rs3801383 7 120966790 rs3779381 2019-01-28 30598549 Morris JA 2018-12-31 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30598549 An atlas of genetic influences on osteoporosis in humans and mice. Heel bone mineral density 426,824 British ancestry individuals NA 7q31.31 WNT16 WNT16 ENSG00000002745 rs3779381-A rs3779381 0 3779381 intron_variant 0 0.74094 4E-143 142.39794000867204 0.0793046 [0.073-0.085] unit decrease NR [13737936] (imputed) N 32 rs3801383 7 120966790 rs3779381 2019-02-08 30251476 Lopez-Mejias R 2018-09-24 Arthritis Rheumatol www.ncbi.nlm.nih.gov/pubmed/30251476 A genome-wide association study identifies a 3'UTR genetic variant of RARB associated with carotid intima-media thickness in rheumatoid arthritis. Ischemic heart disease in rheumatoid arthritis 224 Spanish ancestry patients, 2,765 Spanish ancestry controls NA 7q31.31 WNT16 WNT16 ENSG00000002745 rs3779381-G rs3779381 0 3779381 intron_variant 0 0.283 2E-7 6.698970004336019 1.77 [1.23-2.19] Illumina [63089444] (imputed) N 32 rs3801383 7 120974765 rs3801387 2013-04-11 22504420 Estrada K 2012-04-15 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22504420 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Lumbar spine bone mineral density Up to 32,961 European and East Asian ancestry individuals Up to 50,933 European and East Asian ancestry individuals 7q31.31 WNT16 WNT16 ENSG00000002745 rs3801387-A rs3801387 0 3801387 intron_variant 0 0.74 3E-51 50.52287874528034 0.09 [NR] unit decrease Affymetrix, Illumina [~ 2500000] (imputed) N 32 rs3801383 7 120974765 rs3801387 2018-03-05 29304378 Medina-Gomez C 2018-01-04 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/29304378 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. Total body bone mineral density 56,284 European ancestry individuals, up to 1,333 African American individuals, up to 9,328 admixed individuals NA 7q31.31 NR WNT16 ENSG00000002745 rs3801387-A rs3801387 0 3801387 intron_variant 0 0.7279 1E-100 100.0 0.1347 unit decrease Affymetrix, Illumina [~ 23700000] (imputed) N 32 rs3801383 7 120974765 rs3801387 2018-03-05 29304378 Medina-Gomez C 2018-01-04 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/29304378 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. Total body bone mineral density 56,284 European ancestry individuals, up to 1,333 African American individuals, up to 9,328 admixed individuals NA 7q31.31 NR WNT16 ENSG00000002745 rs3801387-A rs3801387 0 3801387 intron_variant 0 0.7337 3E-87 86.52287874528034 (European) 0.1377 unit decrease Affymetrix, Illumina [~ 23700000] (imputed) N 32 rs3801383 7 120974765 rs3801387 2018-03-05 29304378 Medina-Gomez C 2018-01-04 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/29304378 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. Total body bone mineral density (age 45-60) 18,805 European individuals NA 7q31.31 NR WNT16 ENSG00000002745 rs3801387-A rs3801387 0 3801387 intron_variant 0 0.7348 3E-30 29.522878745280337 0.1359 unit decrease Affymetrix, Illumina [~ 23700000] (imputed) N 32 rs3801383 7 120974765 rs3801387 2018-03-05 29304378 Medina-Gomez C 2018-01-04 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/29304378 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. Total body bone mineral density (age over 60) 22,504 European ancestry and African American individuals NA 7q31.31 NR WNT16 ENSG00000002745 rs3801387-A rs3801387 0 3801387 intron_variant 0 0.7266 3E-35 34.52287874528034 0.1337 unit decrease Affymetrix, Illumina [~ 23700000] (imputed) N 32 rs3801383 7 120983343 rs10242100 2014-07-20 24249740 Zhang L 2013-11-17 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/24249740 Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. Bone mineral density 5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females 7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males 7q31.31 WNT16 WNT16 - FAM3C ENSG00000002745 ENSG00000196937 2185 5562 rs10242100-? rs10242100 0 10242100 intergenic_variant 1 NR 2E-10 9.698970004336019 (hip) Affymetrix, Illumina [5842825] (imputed) N 32 rs3801383 7 120983343 rs10242100 2018-03-05 29304378 Medina-Gomez C 2018-01-04 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/29304378 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. Total body bone mineral density (age 30-45) 10,062 European and unknown ancestry individuals NA 7q31.31 NR WNT16 - FAM3C ENSG00000002745 ENSG00000196937 2185 5562 rs10242100-A rs10242100 0 10242100 intergenic_variant 1 0.7296 8E-23 22.096910013008056 0.1614 unit decrease Affymetrix, Illumina [~ 23700000] (imputed) N 32 rs3801383 7 121018579 rs917727 2012-09-11 22792070 Medina-Gomez C 2012-07-05 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/22792070 Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus. Bone mineral density 1,834 European ancestry children, 825 children 11,052 European ancestry individuals 7q31.31 WNT16 FAM3C ENSG00000196937 rs917727-T rs917727 0 917727 intron_variant 0 0.273 1E-27 27.0 0.154 [NR] unit increase Illumina [3021329] (imputed) N 32 rs3801383 7 121018579 rs917727 2017-09-21 28743860 Medina-Gomez C 2017-07-25 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28743860 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. Bone mineral density (paediatric, total body less head) 8,327 European ancestry individuals, 2,087 individuals NA 7q31.31 WNT16, CPED1 FAM3C ENSG00000196937 rs917727-T rs917727 0 917727 intron_variant 0 0.29 5E-17 16.30102999566398 0.1289 [NR] unit increase Illumina [2276811] (imputed) N 32 rs3801383 7 121018579 rs917727 2017-09-21 28743860 Medina-Gomez C 2017-07-25 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28743860 Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus. TB-LM or TBLH-BMD (pleiotropy) 8,327 European ancestry individuals, 2,087 individuals NA 7q31.31 WNT16, CPED1 FAM3C ENSG00000196937 rs917727-T rs917727 0 917727 intron_variant 0 0.29 3E-20 19.522878745280337 Illumina [2276811] (imputed) N 32 rs3801383 7 121018857 rs917726 2018-03-05 29304378 Medina-Gomez C 2018-01-04 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/29304378 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. Total body bone mineral density (age 0-15) 11,807 European and unknown ancestry individuals NA 7q31.31 NR FAM3C ENSG00000196937 rs917726-A rs917726 0 917726 intron_variant 0 0.7269 5E-21 20.30102999566398 0.137 unit decrease Affymetrix, Illumina [~ 23700000] (imputed) N 32 rs3801383 7 121025502 rs718766 2018-10-19 30172743 Liang X 2018-08-30 Bone www.ncbi.nlm.nih.gov/pubmed/30172743 Assessing the genetic correlations between early growth parameters and bone mineral density: A polygenic risk score analysis. Ulna and radius bone mineral density 2,286 European ancestry individuals NA 7q31.31 FAM3C FAM3C ENSG00000196937 rs718766-? rs718766 0 718766 intron_variant 0 NR 2E-10 9.698970004336019 Affymetrix [753382] N 32 rs3801383 7 121033121 rs7776725 2009-05-05 19396169 Cho YS 2009-04-26 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19396169 A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Biomedical quantitative traits 8,842 Korean ancestry individuals 7,861 Korean ancestry individuals 7q31.31 FAM3C FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 0.13 1E-11 11.0 (BD-RT) Affymetrix [2156535] (imputed) N 32 rs3801383 7 121033121 rs7776725 2009-05-05 19396169 Cho YS 2009-04-26 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19396169 A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Biomedical quantitative traits 8,842 Korean ancestry individuals 7,861 Korean ancestry individuals 7q31.31 FAM3C FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 0.13 2E-6 5.698970004336019 (BD-TT) Affymetrix [2156535] (imputed) N 32 rs3801383 7 121033121 rs7776725 2014-12-18 24945404 Kemp JP 2014-06-19 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/24945404 Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. Bone mineral density (paediatric, total body less head) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA 7q31.31 FAM3C, WNT16, CPED1 FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 0.27 6E-20 19.221848749616356 0.159 [0.13-0.19] unit increase Illumina [~ 2500000] (imputed) N 32 rs3801383 7 121033121 rs7776725 2014-12-18 24945404 Kemp JP 2014-06-19 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/24945404 Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. Bone mineral density (paediatric, total body less head) 8,007 European ancestry children, 289 Surinamese ancestry children, 300 Turkish ancestry children, 232 Moroccan ancestry children, 588 children NA 7q31.31 FAM3C, WNT16, CPED1 FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 NR 2E-15 14.698970004336019 (EA) 0.1582 [0.12-0.2] unit increase Illumina [~ 2500000] (imputed) N 32 rs3801383 7 121033121 rs7776725 2017-02-13 27424934 Choi HJ 2016-07-15 Bone www.ncbi.nlm.nih.gov/pubmed/27424934 Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene. Bone mineral density (femoral neck) 2,729 Korean ancestry individuals 1,547 Han Chinese ancestry individuals, 3,237 European ancestry individuals 7q31.31 WNT16 FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 0.13 1E-6 6.0 0.1 unit increase Affymetrix [328918] N 32 rs3801383 7 121033121 rs7776725 2017-02-13 27424934 Choi HJ 2016-07-15 Bone www.ncbi.nlm.nih.gov/pubmed/27424934 Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene. Bone mineral density (femoral neck) 2,729 Korean ancestry individuals 1,547 Han Chinese ancestry individuals, 3,237 European ancestry individuals 7q31.31 WNT16 FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 0.13 6E-7 6.221848749616356 (females) 0.13 unit increase Affymetrix [328918] N 32 rs3801383 7 121033121 rs7776725 2017-02-13 27424934 Choi HJ 2016-07-15 Bone www.ncbi.nlm.nih.gov/pubmed/27424934 Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene. Bone mineral density (total hip) 2,729 Korean ancestry individuals 1,547 Chinese Han ancestry individuals, 3,237 European ancestry individuals 7q31.31 WNT16 FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 0.13 4E-8 7.3979400086720375 (females) 0.15 unit increase Affymetrix [328918] N 32 rs3801383 7 121033121 rs7776725 2017-02-13 27424934 Choi HJ 2016-07-15 Bone www.ncbi.nlm.nih.gov/pubmed/27424934 Genome-wide association study in East Asians suggests UHMK1 as a novel bone mineral density susceptibility gene. Bone mineral density (total hip) 2,729 Korean ancestry individuals 1,547 Chinese Han ancestry individuals, 3,237 European ancestry individuals 7q31.31 WNT16 FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 0.13 9E-9 8.045757490560675 0.12 unit increase Affymetrix [328918] N 32 rs3801383 7 121033121 rs7776725 2018-04-30 26367794 Zheng HF 2015-10-01 Nature www.ncbi.nlm.nih.gov/pubmed/26367794 Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Forearm bone mineral density 6,627 European ancestry individuals, 1,221 whole genome sequenced European ancestry individuals, 295 whole exome sequenced European ancestry individuals, 2,662 European ancestry individuals 7q31.31 WNT16, FAM3C FAM3C ENSG00000196937 rs7776725-C rs7776725 0 7776725 intron_variant 0 0.285 1E-25 25.0 0.186 [0.15-0.22] unit increase Illumina [at least 14018627] (imputed) N 32 rs3801383 7 121033121 rs7776725 2018-10-19 30172743 Liang X 2018-08-30 Bone www.ncbi.nlm.nih.gov/pubmed/30172743 Assessing the genetic correlations between early growth parameters and bone mineral density: A polygenic risk score analysis. Total body bone mineral density 2,286 European ancestry individuals NA 7q31.31 FAM3C FAM3C ENSG00000196937 rs7776725-? rs7776725 0 7776725 intron_variant 0 NR 2E-6 5.698970004336019 Affymetrix [753382] N 33 rs55705857 8 130645692 rs55705857 2016-10-12 26424050 Kinnersley B 2015-10-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26424050 Genome-wide association study identifies multiple susceptibility loci for glioma. Glioma 1,783 Northern European ancestry glioblastoma cases, 2,364 Northern European ancestry non-glioblastoma cases, 7,435 Northern European ancestry controls 1,490 European ancestry cases, 1,723 European ancestry control 8q24.21 NR CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 NR 6E-37 36.221848749616356 2.19 [1.94-2.47] Illumina [at least 8427548] (imputed) N 33 rs55705857 8 130645692 rs55705857 2016-10-12 26424050 Kinnersley B 2015-10-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26424050 Genome-wide association study identifies multiple susceptibility loci for glioma. Non-glioblastoma glioma 2,364 Northern European ancestry cases, 7,435 Northern European ancestry controls up to 1,490 European ancestry cases, up to 1,723 European ancestry controls 8q24.21 NR CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 NR 1E-62 62.0 3.6 [3.10-4.19] Illumina [at least 8427548] (imputed) N 33 rs55705857 8 130645692 rs55705857 2017-07-13 28346443 Melin BS 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346443 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Glioblastoma 6,191 European ancestry cases, 18,190 European ancestry controls. NA 8q24.21 CCDC26 CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 0.057 9E-7 6.045757490560675 1.27 1.16-1.40 Illumina [at least 6790270] (imputed) N 33 rs55705857 8 130645692 rs55705857 2017-07-13 28346443 Melin BS 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346443 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Glioma 12,469 European ancestry cases, 18,190 European ancestry controls. NA 8q24.21 CCDC26 CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 0.057 1E-78 78.0 1.99 1.85-2.13 Illumina [at least 6887412] (imputed) N 33 rs55705857 8 130645692 rs55705857 2017-07-13 28346443 Melin BS 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346443 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors. Non-glioblastoma glioma 5,819 European ancestry cases, 18,190 European ancestry controls. NA 8q24.21 CCDC26 CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 0.057 7E-149 148.15490195998575 3.39 3.09-3.71 Illumina [at least 6769856] (imputed) N 33 rs55705857 8 130645692 rs55705857 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Glioblastoma 2,835 European ancestry male cases, 1,682 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 8q24.21 MYC CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 NR 4E-7 6.3979400086720375 (females) 1.61 [1.34-1.94] Affymetrix, Illumina [NR] (imputed) N 33 rs55705857 8 130645692 rs55705857 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Glioma 4,831 European ancestry male cases, 3,206 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 8q24.21 MYC CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 NR 1E-14 14.0 (males) 1.56 [1.40-1.75] Affymetrix, Illumina [NR] (imputed) N 33 rs55705857 8 130645692 rs55705857 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Glioma 4,831 European ancestry male cases, 3,206 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 8q24.21 MYC CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 NR 1E-39 39.0 (females) 2.45 [2.14-2.80] Affymetrix, Illumina [NR] (imputed) N 33 rs55705857 8 130645692 rs55705857 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Non-glioblastoma glioma 1,716 European ancestry male cases, 1,320 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 8q24.21 MYC CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 NR 2E-65 64.69897000433602 (females) 4.71 [3.94-5.63] Affymetrix, Illumina [NR] (imputed) N 33 rs55705857 8 130645692 rs55705857 2018-07-20 29743610 Ostrom QT 2018-05-09 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29743610 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21. Non-glioblastoma glioma 1,716 European ancestry male cases, 1,320 European ancestry female cases, 5,216 European ancestry male controls, 5,470 European ancestry female controls NA 8q24.21 MYC CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 NR 8E-36 35.096910013008056 (males) 2.66 [2.28-3.10] Affymetrix, Illumina [NR] (imputed) N 33 rs55705857 8 130645692 rs55705857 2018-11-01 30152087 Ostrom QT 2018-08-27 Int J Cancer www.ncbi.nlm.nih.gov/pubmed/30152087 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age. Glioblastoma (age-stratified) 1,533 cases diagnosed below median age, 1,476 cases diagnosed at median age, 1,503 cases diagnosed above median age, 10,582 controls, NA 8q24.21 CCDC26 CCDC26 ENSG00000229140 rs55705857-G rs55705857 0 55705857 intron_variant 0 NR 9E-11 10.045757490560675 (Below median age-at-diagnosis) 1.76 [1.49-2.10] NR [NR] (imputed) N 34 rs72748148 9 113660537 rs10980623 2018-06-05 29760442 Iglesias AI 2018-05-14 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29760442 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Central corneal thickness 17,803 European ancestry individuals, 8,107 Asian ancestry individuals NA 9q31.3 LPAR1 LPAR1 ENSG00000198121 rs10980623-A rs10980623 0 10980623 intron_variant 0 0.79 6E-15 14.221848749616356 2.9 [2.17-3.63] unit decrease Affymetrix, Illumina [NR] (imputed) N 34 rs72748148 9 113662681 rs1007000 2013-03-28 23291589 Lu Y 2013-01-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/23291589 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Corneal structure 13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals NA 9q31.3 LPAR1 LPAR1 ENSG00000198121 rs1007000-T rs1007000 0 1007000 intron_variant 0 0.22 5E-12 11.301029995663981 0.07 [0.031-0.109] unit increase Affymetrix, Illumina [~ 1000000] (imputed) N 35 rs10508552 10 18222342 rs10827785 2018-07-28 29403010 Kanai M 2018-02-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29403010 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. Aspartate aminotransferase levels 134,154 Japanese ancestry individuals NA 10p12.33 MRC1, SLC39A12 MRC1 - SLC39A12 ENSG00000260314 ENSG00000148482 22243 18426 rs10827785-? rs10827785 0 10827785 intergenic_variant 1 NR 2E-19 18.69897000433602 0.04447 [0.035-0.054] unit increase novel Illumina [6108953] (imputed) N 36 rs2274224 10 96012950 rs7080472 2019-05-02 30487518 Takeuchi F 2018-11-28 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30487518 Interethnic analyses of blood pressure loci in populations of East Asian and European descent. Systolic blood pressure 130,777 Japanese ancestry individuals 53,008 East Asian individuals, 105,253 European ancestry individuals 10q23.33 NR PLCE1 ENSG00000138193 rs7080472-T rs7080472 0 7080472 intron_variant 0 0.4534 4E-8 7.3979400086720375 (East Asian) 0.3509 [0.23-0.48] unit decrease Illumina [6200000] (imputed) N 36 rs2274224 10 96014622 rs10786156 2017-03-10 27322543 Gormley P 2016-06-20 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27322543 Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Migraine 59,674 European ancestry cases, 316,078 European ancestry controls NA 10q23.33 PLCE1 PLCE1 ENSG00000138193 rs10786156-? rs10786156 0 10786156 intron_variant 0 0.55 2E-14 13.698970004336019 1.0526316 [1.04-1.06] Affymetrix, Illumina, Perlegen [8094889] (imputed) N 36 rs2274224 10 96014622 rs10786156 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Cardiovascular disease approximately 459,000 European ancestry individuals NA 10q23.33 PLCE1 ENSG00000138193 rs10786156-? rs10786156 0 10786156 intron_variant 0 NR 7E-22 21.154901959985743 NR [~ 8900000] (imputed) N 36 rs2274224 10 96015793 rs3891783 2018-08-13 29891935 Choquet H 2018-06-11 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29891935 A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci. Glaucoma (primary open-angle) 10,523 European ancestry cases, 203,579 European ancestry controls, 411 Hispanic cases, 4,778 Hispanic controls, 463 East Asian ancestry cases, 4,907 East Asian ancestry controls, 298 African American cases, 1,549 African American controls, 204 South Asian ancestry cases, 4,916 South Asian ancestry controls, 272 African British cases, 4,831 African British controls, 144 mixed ancestry cases, 3,427 mixed ancestry controls NA 10q23.33 PLCE1 PLCE1 ENSG00000138193 rs3891783-G rs3891783 0 3891783 intron_variant 0 NR 2E-8 7.698970004336019 1.0752687 [1.05-1.11] Affymetrix [at least 665500] (imputed) N 36 rs2274224 10 96023077 rs57866767 2019-03-07 30578418 Giri A 2018-12-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30578418 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. Systolic blood pressure 365,998 European ancestry individuals, 63,490 African ancestry individuals, 22,802 Hispanic individuals, 4,792 Asian ancestry individuals, 2,695 Native American ancestry individuals 299,024 European ancestry individuals, 17,277 individuals 10q23.33 PLCE1 PLCE1 ENSG00000138193 rs57866767-C rs57866767 0 57866767 intron_variant 0 0.5435 8E-21 20.096910013008056 0.306 [0.24-0.37] mmHg increase Affymetrix [NR] (imputed) N 36 rs2274224 10 96036306 rs7072574 2015-07-08 25241763 Springelkamp H 2014-09-22 Nat Commun www.ncbi.nlm.nih.gov/pubmed/25241763 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Vertical cup-disc ratio 18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals 2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals 10q23.33 PLCE1 PLCE1 ENSG00000138193 rs7072574-A rs7072574 0 7072574 intron_variant 0 NR 1E-9 9.0 0.009 [0.0070-0.0110] unit increase Affymetrix, Illumina [~ 2500000] (imputed) N 36 rs2274224 10 96036306 rs7072574 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. White blood cell count approximately 444,000 European ancestry individuals NA 10q23.33 PLCE1 ENSG00000138193 rs7072574-? rs7072574 0 7072574 intron_variant 0 NR 1E-9 9.0 NR [~ 8900000] (imputed) N 36 rs2274224 10 96038686 rs11187838 2017-05-11 27182965 Pickrell JK 2016-05-16 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27182965 Detection and interpretation of shared genetic influences on 42 human traits. Migraine 53,109 European ancestry cases, 230,876 European ancestry controls NA 10q23.33 PLCE1 PLCE1 ENSG00000138193 rs11187838-? rs11187838 0 11187838 intron_variant 0 NR 1E-9 9.0 1.047 [1.032-1.063] Illumina [13763073] (imputed) N 36 rs2274224 10 96038686 rs11187838 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Fat-free mass 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 10q23.33 NR PLCE1 ENSG00000138193 rs11187838-? rs11187838 0 11187838 intron_variant 0 NR 2E-11 10.698970004336019 0.14829 [0.1-0.19] unit increase Affymetrix [7794483] (imputed) N 36 rs2274224 10 96038686 rs11187838 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Fat-free mass 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 10q23.33 NR PLCE1 ENSG00000138193 rs11187838-? rs11187838 0 11187838 intron_variant 0 NR 2E-6 5.698970004336019 (male) 0.16716 [0.098-0.236] unit increase Affymetrix [7794483] (imputed) N 36 rs2274224 10 96038686 rs11187838 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Fat-free mass 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 10q23.33 NR PLCE1 ENSG00000138193 rs11187838-? rs11187838 0 11187838 intron_variant 0 NR 3E-7 6.522878745280337 (female) 0.12428 [0.077-0.172] unit increase Affymetrix [7794483] (imputed) N 36 rs2274224 10 96038686 rs11187838 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Systolic blood pressure approximately 422,000 European ancestry individuals NA 10q23.33 PLCE1 ENSG00000138193 rs11187838-? rs11187838 0 11187838 intron_variant 0 NR 8E-45 44.096910013008056 NR [~ 8900000] (imputed) N 36 rs2274224 10 96039597 rs2274224 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Body fat percentage 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 10q23.33 NR PLCE1, PLCE1-AS1 ENSG00000138193, ENSG00000268894 rs2274224-? rs2274224 0 2274224 missense_variant 0 NR 4E-11 10.397940008672037 (male) 0.17301 [0.12-0.22] unit decrease Affymetrix [7794483] (imputed) N 36 rs2274224 10 96039597 rs2274224 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Body fat percentage 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 10q23.33 NR PLCE1, PLCE1-AS1 ENSG00000138193, ENSG00000268894 rs2274224-? rs2274224 0 2274224 missense_variant 0 NR 4E-15 14.397940008672037 0.16676 [0.13-0.21] unit decrease Affymetrix [7794483] (imputed) N 36 rs2274224 10 96039597 rs2274224 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Body fat percentage 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 10q23.33 NR PLCE1, PLCE1-AS1 ENSG00000138193, ENSG00000268894 rs2274224-? rs2274224 0 2274224 missense_variant 0 NR 4E-6 5.3979400086720375 (female) 0.15903 [0.091-0.227] unit decrease Affymetrix [7794483] (imputed) N 36 rs2274224 10 96066341 rs2274223 2011-06-16 21642993 Wu C 2011-06-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/21642993 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. Esophageal cancer 2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls 3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls 10q23.33 PLCE1 PLCE1 ENSG00000138193 rs2274223-G rs2274223 0 2274223 missense_variant 0 0.21 4E-20 19.397940008672037 1.34 [1.26-1.42] Affymetrix [666141] N 36 rs2274224 10 96066341 rs2274223 2015-04-16 25129146 Wu C 2014-08-17 Nat Genet www.ncbi.nlm.nih.gov/pubmed/25129146 Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. Esophageal squamous cell carcinoma 5,337 Han Chinese ancestry cases, 5,787 Han Chinese ancestry controls 9,654 Han Chinese ancestry cases, 10,058 Han Chinese ancestry controls 10q23.33 PLCE1, KIAA1516 PLCE1 ENSG00000138193 rs2274223-G rs2274223 0 2274223 missense_variant 0 0.209 4E-18 17.397940008672037 1.35 [1.26-1.45] Affymetrix, Illumina [7556215] (imputed) N 37 rs7080018 10 134297909 rs67221163 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Menarche (age at onset) approximately 242,000 European ancestry individuals NA 10q26.3 C10orf91 - AL451069.1 ENSG00000180066 ENSG00000226900 34997 27221 rs67221163-? rs67221163 0 67221163 intergenic_variant 1 NR 4E-8 7.3979400086720375 NR [~ 8900000] (imputed) N 38 rs61264398 11 10476689 rs899013 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. White blood cell count approximately 444,000 European ancestry individuals NA 11p15.4 AMPD3 ENSG00000133805 rs899013-? rs899013 0 899013 intron_variant 0 NR 2E-8 7.698970004336019 NR [~ 8900000] (imputed) N 38 rs11042933 11 10740366 rs2018368 2012-11-02 20889312 Wang KS 2010-10-01 Schizophr Res www.ncbi.nlm.nih.gov/pubmed/20889312 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. Bipolar disorder and schizophrenia 651 European ancestry bipolar cases, 1,171 European ancestry schizophrenia cases, 2,412 European ancestry controls NA 11p15.4 NR MRVI1 - RF00019 ENSG00000072952 ENSG00000200572 24831 7084 rs2018368-? rs2018368 0 2018368 intergenic_variant 1 NR 1E-6 6.0 1.2392 [NR] Affymetrix [722112] N 38 rs11042933 11 10745394 rs11042937 2018-01-29 29212778 van der Harst P 2017-12-06 Circ Res www.ncbi.nlm.nih.gov/pubmed/29212778 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. Coronary artery disease 88,192 cases, 162,544 controls 34,541 cases, 261,984 controls 11p15.4 intergenic MRVI1 - RF00019 ENSG00000072952 ENSG00000200572 29859 2056 rs11042937-T rs11042937 0 11042937 intergenic_variant 1 0.5016 3E-10 9.522878745280337 0.0403 [0.028-0.053] unit increase NR [8041861] (imputed) N 42 rs10774183 12 4007898 rs1419859 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Dentate gyrus granule cell layer volume 21,297 European ancestry individuals NA 12p13.32 AC005842.1 ENSG00000256862 rs1419859-T rs1419859 0 1419859 intron_variant 0 NR 3E-10 9.522878745280337 3.86 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 42 rs10774183 12 4007898 rs1419859 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Dentate gyrus molecular layer volume 21,297 European ancestry individuals NA 12p13.32 AC005842.1 ENSG00000256862 rs1419859-T rs1419859 0 1419859 intron_variant 0 NR 2E-9 8.698970004336019 6.47 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 42 rs10774183 12 4007898 rs1419859 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal subfield CA4 volume 21,297 European ancestry individuals NA 12p13.32 AC005842.1 ENSG00000256862 rs1419859-T rs1419859 0 1419859 intron_variant 0 NR 7E-10 9.154901959985743 3.27 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 42 rs10774183 12 4007898 rs1419859 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Total hippocampal volume 21,297 European ancestry individuals NA 12p13.32 PARP11 AC005842.1 ENSG00000256862 rs1419859-T rs1419859 0 1419859 intron_variant 0 NR 1E-9 9.0 35.6 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 43 rs17178006 12 65718299 rs17178006 2012-06-02 22504421 Bis JC 2012-04-15 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22504421 Common variants at 12q14 and 12q24 are associated with hippocampal volume. Hippocampal volume 9,232 European ancestry individuals 2,318 European ancestry individuals 12q14.3 MSRB3 MSRB3 ENSG00000174099 rs17178006-G rs17178006 0 17178006 intron_variant 0 0.10 5E-11 10.301029995663981 123.8 [86.76-160.84] mm3 decrease Affymetrix, Illumina [~ 2500000] (imputed) N 43 rs17178006 12 65718299 rs17178006 2015-11-03 25607358 Hibar DP 2015-01-21 Nature www.ncbi.nlm.nih.gov/pubmed/25607358 Common genetic variants influence human subcortical brain structures. Subcortical brain region volumes up to 13,171 European ancestry individuals up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals 12q14.3 MSRB3 MSRB3 ENSG00000174099 rs17178006-? rs17178006 0 17178006 intron_variant 0 NR 3E-7 6.522878745280337 (Hippocampus, EA) 44.27 [27.43-61.11] unit increase Affymetrix, Illumina [NR] (imputed) N 43 rs17178006 12 65718299 rs17178006 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Dentate gyrus granule cell layer volume 21,297 European ancestry individuals NA 12q14.3 WIF1, LEMD3, MSRB3 MSRB3 ENSG00000174099 rs17178006-G rs17178006 0 17178006 intron_variant 0 NR 5E-21 20.30102999566398 8.84 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 43 rs17178006 12 65718299 rs17178006 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal fissure volume 21,297 European ancestry individuals NA 12q14.3 LEMD3, MSRB3, WIF1 MSRB3 ENSG00000174099 rs17178006-G rs17178006 0 17178006 intron_variant 0 NR 2E-13 12.698970004336019 5.65 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 43 rs17178006 12 65718299 rs17178006 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal subfield CA1 volume 21,297 European ancestry individuals NA 12q14.3 WIF1, LEMD3, MSRB3 MSRB3 ENSG00000174099 rs17178006-G rs17178006 0 17178006 intron_variant 0 NR 6E-28 27.221848749616356 21.43 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 43 rs17178006 12 65718299 rs17178006 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal subfield CA1 volume (corrected for total hippocampal volume) 21,297 European ancestry individuals NA 12q14.3 WIF1, LEMD3, MSRB3 MSRB3 ENSG00000174099 rs17178006-G rs17178006 0 17178006 intron_variant 0 NR 8E-19 18.096910013008056 6.48 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 43 rs17178006 12 65718299 rs17178006 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal subfield CA3 volume 21,297 European ancestry individuals NA 12q14.3 WIF1, LEMD3, MSRB3 MSRB3 ENSG00000174099 rs17178006-G rs17178006 0 17178006 intron_variant 0 NR 9E-19 18.045757490560675 7.76 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 43 rs17178006 12 65718299 rs17178006 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal subfield CA4 volume 21,297 European ancestry individuals NA 12q14.3 WIF1, LEMD3, MSRB3 MSRB3 ENSG00000174099 rs17178006-G rs17178006 0 17178006 intron_variant 0 NR 3E-19 18.522878745280337 7.33 NR mm3 decrease Affymetrix, Illumina [NR] (imputed) N 43 rs17178006 12 65718299 rs17178006 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Presubiculum volume (corrected for total hippocampal volume) 21,297 European ancestry individuals NA 12q14.3 HRK MSRB3 ENSG00000174099 rs17178006-G rs17178006 0 17178006 intron_variant 0 WIF1, LEMD3, MSRB3 2E-15 14.698970004336019 5.61 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 44 rs79426107 12 90420680 rs76016857 2018-10-18 30048462 Kim SK 2018-07-26 PLoS One www.ncbi.nlm.nih.gov/pubmed/30048462 Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture. Heel bone mineral density 394,929 European ancestry individuals NA 12q21.33 AC084200.1 ENSG00000257194 80836 rs76016857-? rs76016857 0 76016857 intergenic_variant 0 NR 2E-9 8.698970004336019 0.0293516 [0.02-0.039] unit increase Affymetrix [20259828] (imputed) N 45 rs12146713 12 106476805 rs12146713 2019-02-14 30258056 Vojinovic D 2018-09-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30258056 Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. Lateral ventricular volume in normal aging 22,045 European ancestry individuals, 1,488 African American individuals NA 12q23.3 NUAK1 NUAK1 ENSG00000074590 rs12146713-T rs12146713 0 12146713 intron_variant 0 0.92 3E-13 12.522878745280337 7.28 z score decrease Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117321662 rs7137149 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Presubiculum volume 21,297 European ancestry individuals NA 12q24.22 HRK HRK - AC083806.1 ENSG00000135116 ENSG00000240100 2416 24455 rs7137149-C rs7137149 0 7137149 intergenic_variant 1 NR 1E-11 11.0 6.78 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2015-11-03 25607358 Hibar DP 2015-01-21 Nature www.ncbi.nlm.nih.gov/pubmed/25607358 Common genetic variants influence human subcortical brain structures. Subcortical brain region volumes up to 13,171 European ancestry individuals up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals 12q24.22 HRK HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-T rs77956314 0 77956314 regulatory_region_variant 1 0.91 3E-15 14.522878745280337 (Hippocampus, EA) 55.18 [41.48-68.88] mm3 decrease Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2017-05-11 28098162 Hibar DP 2017-01-18 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28098162 Novel genetic loci associated with hippocampal volume. Hippocampal volume 26,814 European ancestry individuals up to 3,863 European ancestry individuals, up to 562 African American individuals, up to 886 Asian ancestry individuals, up to 1,411 Mexican American individuals 12q24.22 HRK HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-T rs77956314 0 77956314 regulatory_region_variant 1 0.916 2E-25 24.69897000433602 (EA) 10.418 [NR] z score decrease Affymetrix, Illumina, Perlegen [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Dentate gyrus granule cell layer volume 21,297 European ancestry individuals NA 12q24.22 HRK, FBXW8, TESC, RNFT2 HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 9E-26 25.045757490560675 11.01 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Dentate gyrus molecular layer volume 21,297 European ancestry individuals NA 12q24.22 RNFT2, HRK, FBXW8, TESC HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 2E-25 24.69897000433602 19.27 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. HATA volume 21,297 European ancestry individuals NA 12q24.22 HRK, FBXW8 HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 4E-13 12.397940008672037 2.04 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal subfield CA1 volume 21,297 European ancestry individuals NA 12q24.22 RNFT2, HRK, FBXW8, TESC HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 7E-28 27.154901959985743 24.08 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal subfield CA3 volume 21,297 European ancestry individuals NA 12q24.22 RNFT2, HRK, FBXW8 HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 2E-15 14.698970004336019 7.79 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal subfield CA4 volume 21,297 European ancestry individuals NA 12q24.22 RNFT2, HRK, FBXW8, TESC HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 2E-24 23.69897000433602 9.26 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Hippocampal tail volume 21,297 European ancestry individuals NA 12q24.22 RNFT2, HRK, FBXW8, TESC HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 2E-19 18.69897000433602 20.52 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Subiculum volume 21,297 European ancestry individuals NA 12q24.22 RNFT2, HRK, FBXW8 HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 1E-17 17.0 12.96 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-01-11 30279459 van der Meer D 2018-10-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30279459 Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes. Total hippocampal volume 21,297 European ancestry individuals NA 12q24.22 RNFT2, HRK, FBXW8, TESC HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-C rs77956314 0 77956314 regulatory_region_variant 1 NR 2E-35 34.69897000433602 123.31 NR mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117323367 rs77956314 2019-04-17 30818988 Klein M 2019-03-01 Am J Psychiatry www.ncbi.nlm.nih.gov/pubmed/30818988 Genetic Markers of ADHD-Related Variations in Intracranial Volume. Hippocampal volume 24,704 European ancestry individuals NA 12q24.22 NR HRK - AC083806.1 ENSG00000135116 ENSG00000240100 4121 22750 rs77956314-T rs77956314 0 77956314 regulatory_region_variant 1 NR 2E-21 20.69897000433602 9.53 NR Z score decrease NR [9145464] (imputed) N 46 rs746915907 12 117327592 rs7294919 2012-06-02 22504421 Bis JC 2012-04-15 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22504421 Common variants at 12q14 and 12q24 are associated with hippocampal volume. Hippocampal volume 9,232 European ancestry individuals 2,318 European ancestry individuals 12q24.22 HRK HRK - AC083806.1 ENSG00000135116 ENSG00000240100 8346 18525 rs7294919-T rs7294919 0 7294919 regulatory_region_variant 1 0.91 3E-11 10.522878745280337 107.8 [76.05-139.55] mm3 decrease Affymetrix, Illumina [~ 2500000] (imputed) N 46 rs746915907 12 117327592 rs7294919 2012-06-21 22504417 Stein JL 2012-04-15 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22504417 Identification of common variants associated with human hippocampal and intracranial volumes. Brain structure 2,020 European ancestry neuropsychiatric disorder cases, 5,775 European ancestry controls 599 European ancestry neuropsychiatric disorder cases, 11,915 European ancestry controls, 143 European ancestry and African American neuropsychiatric disorder cases, 94 European ancestry and African American controls, 605 Hispanic controls 12q24.22 HRK, FBXW8 HRK - AC083806.1 ENSG00000135116 ENSG00000240100 8346 18525 rs7294919-C rs7294919 0 7294919 regulatory_region_variant 1 0.099 7E-16 15.154901959985743 (Mean bilateral hippocampal volume) 47.58 [36.04-59.12] mm3 increase Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117327592 rs7294919 2015-11-03 25607358 Hibar DP 2015-01-21 Nature www.ncbi.nlm.nih.gov/pubmed/25607358 Common genetic variants influence human subcortical brain structures. Subcortical brain region volumes up to 13,171 European ancestry individuals up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals 12q24.22 HRK HRK - AC083806.1 ENSG00000135116 ENSG00000240100 8346 18525 rs7294919-? rs7294919 0 7294919 regulatory_region_variant 1 NR 7E-10 9.154901959985743 (Hippocampus, EA) 48.84 [33.34-64.34] unit decrease Affymetrix, Illumina [NR] (imputed) N 46 rs746915907 12 117337103 rs113844630 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Eosinophil counts approximately 440,000 European ancestry individuals NA 12q24.22 HRK - AC083806.1 ENSG00000135116 ENSG00000240100 17857 9014 rs113844630-? rs113844630 0 113844630 intergenic_variant 1 NR 8E-8 7.096910013008056 NR [~ 8900000] (imputed) N 47 rs8014725 14 56199048 rs8017172 2017-10-24 28892059 Chang D 2017-09-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28892059 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. Parkinson's disease 20,184 European ancestry cases, 397,324 European ancestry controls 5,851 European ancestry cases, 5,866 European ancestry controls 14q22.3 NR KTN1 - AL355773.1 ENSG00000126777 ENSG00000258784 30804 15878 rs8017172-G rs8017172 0 8017172 regulatory_region_variant 1 NR 2E-7 6.698970004336019 1.0615711 [1.04-1.08] Illumina [11933700] (imputed) N 47 rs8014725 14 56199048 rs8017172 2017-12-20 29147026 Chen CH 2017-11-16 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29147026 Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure. Putamen volume 12,596 European ancestry individuals NA 14q22.3 RPL13AP3 KTN1 - AL355773.1 ENSG00000126777 ENSG00000258784 30804 15878 rs8017172-? rs8017172 0 8017172 regulatory_region_variant 1 NR 2E-24 23.69897000433602 60.488 [48.78-72.20] mm3 increase Affymetrix, Illumina [~ 2500000] (imputed) N 47 rs8014725 14 56200473 rs945270 2015-11-03 25607358 Hibar DP 2015-01-21 Nature www.ncbi.nlm.nih.gov/pubmed/25607358 Common genetic variants influence human subcortical brain structures. Subcortical brain region volumes up to 13,171 European ancestry individuals up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals 14q22.3 KTN1 KTN1 - AL355773.1 ENSG00000126777 ENSG00000258784 32229 14453 rs945270-C rs945270 0 945270 intergenic_variant 1 0.58 1E-33 33.0 (Putamen, EA) 48.89 [40.97-56.81] mm3 increase Affymetrix, Illumina [NR] (imputed) N 49 rs1080066 15 39632269 rs7182018 2019-03-19 30649180 Luo Q 2019-01-16 JAMA Psychiatry www.ncbi.nlm.nih.gov/pubmed/30649180 Association of a Schizophrenia-Risk Nonsynonymous Variant With Putamen Volume in Adolescents: A Voxelwise and Genome-Wide Association Study. Voxel-wise structural brain imaging measurements 1,721 European ancestry adolescent individuals 6,932 British ancestry individuals 15q14 AC013652.1 ENSG00000259345 rs7182018-? rs7182018 0 7182018 intron_variant 0 NR 2E-70 69.69897000433602 (right central sulcus peak voxel) Illumina [466114] N 49 rs1080066 15 39632269 rs7182018 2019-03-19 30649180 Luo Q 2019-01-16 JAMA Psychiatry www.ncbi.nlm.nih.gov/pubmed/30649180 Association of a Schizophrenia-Risk Nonsynonymous Variant With Putamen Volume in Adolescents: A Voxelwise and Genome-Wide Association Study. Voxel-wise structural brain imaging measurements 1,721 European ancestry adolescent individuals 6,932 British ancestry individuals 15q14 AC013652.1 ENSG00000259345 rs7182018-? rs7182018 0 7182018 intron_variant 0 NR 4E-60 59.39794000867204 (left central sulcus peak voxel) Illumina [466114] N 49 rs1080066 15 39639898 rs4924345 2018-12-14 30305740 Elliott LT 2018-10-10 Nature www.ncbi.nlm.nih.gov/pubmed/30305740 Genome-wide association studies of brain imaging phenotypes in UK Biobank. Brain imaging measurements 8,428 British ancestry individuals 4,386 European ancestry individuals 15q14 NR AC013652.1 ENSG00000259345 rs4924345-C rs4924345 0 4924345 intron_variant 0 0.081185 3E-50 49.52287874528034 (Imaging-derived phenotype a2009s_rh_S_central_area) 0.34292 [0.3-0.39] unit increase NR [11734353] (imputed) N 49 rs1080066 15 39639898 rs4924345 2018-12-14 30305740 Elliott LT 2018-10-10 Nature www.ncbi.nlm.nih.gov/pubmed/30305740 Genome-wide association studies of brain imaging phenotypes in UK Biobank. Brain imaging measurements 8,428 British ancestry individuals 4,386 European ancestry individuals 15q14 NR AC013652.1 ENSG00000259345 rs4924345-C rs4924345 0 4924345 intron_variant 0 0.081185 3E-53 52.52287874528034 (Imaging-derived phenotype a2009s_lh_S_central_area) 0.35321 [0.31-0.4] unit increase NR [11734353] (imputed) N 50 rs4775006 15 58215727 rs4775006 2019-02-08 30664745 Tachmazidou I 2019-01-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30664745 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. Knee osteoarthritis 24,955 European ancestry cases, 378,169 European ancestry controls NA 15q21.3 NR POLR2M - ALDH1A2 ENSG00000255529 ENSG00000128918 140767 29895 rs4775006-A rs4775006 0 4775006 regulatory_region_variant 1 0.41 8E-10 9.096910013008056 1.06 [1.04-1.08] Affymetrix, Illumina [up to 17000000] (imputed) N 50 rs28379349 15 58246802 rs3204689 2014-11-06 24728293 Styrkarsdottir U 2014-04-13 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24728293 Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31. Osteoarthritis (hand, severe) 623 European ancestry cases, 69,153 European ancestry controls 214 European ancestry cases, 8,172 European ancestry controls 15q21.3 ALDH1A2 ALDH1A2 ENSG00000128918 rs3204689-C rs3204689 0 3204689 3_prime_UTR_variant 0 0.52 1E-11 11.0 1.46 [1.31-1.63] Illumina [34200000] (imputed) N 50 rs28379349 15 58253106 rs3784262 2014-04-10 24121790 Levine DM 2013-10-13 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24121790 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. Barrett's esophagus 2,416 European ancestry cases, 3,206 European ancestry controls 759 European ancestry cases, 6,911 European ancestry controls 15q21.3 NR ALDH1A2 ENSG00000128918 rs3784262-A rs3784262 0 3784262 intron_variant 0 0.54 4E-7 6.3979400086720375 1.1765 [1.11-1.25] Illumina [922031] N 50 rs28379349 15 58253106 rs3784262 2014-04-10 24121790 Levine DM 2013-10-13 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24121790 A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) 3,928 European ancestry cases, 3,207 European ancestry controls 1,636 European ancestry cases, 6,911 European ancestry controls 15q21.3 NR ALDH1A2 ENSG00000128918 rs3784262-A rs3784262 0 3784262 intron_variant 0 0.54 7E-7 6.154901959985743 1.1364 [1.09-1.2] Illumina [922031] N 51 rs4777315 15 71109147 rs1549318 2011-09-27 21873549 Strawbridge RJ 2011-08-26 Diabetes www.ncbi.nlm.nih.gov/pubmed/21873549 Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Proinsulin levels 10,701 European ancestry individuals 16,378 European ancestry individuals 15q23 LARP6 RPL29P30 - LARP6 ENSG00000235420 ENSG00000166173 14120 12322 rs1549318-T rs1549318 0 1549318 intergenic_variant 1 0.61 2E-10 9.698970004336019 Affymetrix, Illumina [~ 2500000] (imputed) N 53 rs4843227 16 87225101 rs9937293 2019-02-14 30258056 Vojinovic D 2018-09-26 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30258056 Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. Lateral ventricular volume in normal aging 22,045 European ancestry individuals, 1,488 African American individuals NA 16q24.2 FOXL1, C16orf95 C16orf95 ENSG00000260456 rs9937293-A rs9937293 0 9937293 intron_variant 0 0.59 4E-15 14.397940008672037 7.84 z score increase Affymetrix, Illumina [NR] (imputed) N 54 rs7219015 17 2555592 rs7219015 2017-06-12 28194004 Deary V 2017-02-14 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/28194004 Genetic contributions to self-reported tiredness. Self-reported tiredness 108,976 British ancestry individuals NA 17p13.3 PAFAH1B1 PAFAH1B1 ENSG00000007168 rs7219015-? rs7219015 0 7219015 intron_variant 0 7E-8 7.154901959985743 Affymetrix [~ 17300000] (imputed) N 54 rs7219015 17 2564267 rs7218235 2018-02-27 29292387 Turley P 2018-01-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29292387 Multi-trait analysis of genome-wide association summary statistics using MTAG. Depressive symptoms (MTAG) 354,862 European ancestry individuals NA 17p13.3 NR PAFAH1B1 ENSG00000007168 rs7218235-A rs7218235 0 7218235 intron_variant 0 0.214 6E-11 10.221848749616356 0.0176 [0.012-0.023] unit increase Illumina [NR] (imputed) N 54 rs7219015 17 2564267 rs7218235 2018-02-27 29292387 Turley P 2018-01-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29292387 Multi-trait analysis of genome-wide association summary statistics using MTAG. Neuroticism (MTAG) 168,105 European ancestry individuals NA 17p13.3 NR PAFAH1B1 ENSG00000007168 rs7218235-A rs7218235 0 7218235 intron_variant 0 0.2077 1E-11 11.0 0.0241 [0.017-0.031] unit increase Illumina [NR] (imputed) N 54 rs7219015 17 2564267 rs7218235 2018-02-27 29292387 Turley P 2018-01-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29292387 Multi-trait analysis of genome-wide association summary statistics using MTAG. Subjective well-being (MTAG) 388,538 European ancestry individuals NA 17p13.3 NR PAFAH1B1 ENSG00000007168 rs7218235-A rs7218235 0 7218235 intron_variant 0 0.2128 4E-11 10.397940008672037 0.015395784 [0.011-0.02] unit decrease Illumina [NR] (imputed) N 54 rs7219015 17 2564267 rs7218235 2018-10-19 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (years of education) up to 1,131,881 European ancestry individuals NA 17p13.3 PAFAH1B1 ENSG00000007168 rs7218235-A rs7218235 0 7218235 intron_variant 0 0.2135 2E-8 7.698970004336019 0.0097 [0.0064-0.013] unit decrease Affymetrix, Illumina [10000000] (imputed) N 54 rs7219015 17 2564267 rs7218235 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (MTAG) 1,311,438 European ancestry individuals NA 17p13.3 Intergenic PAFAH1B1 ENSG00000007168 rs7218235-A rs7218235 0 7218235 intron_variant 0 0.2135 3E-8 7.522878745280337 (MTAG) 0.009 [0.0059-0.0121] unit decrease Affymetrix, Illumina [7100000] (imputed) N 55 rs72639204 17 19204432 rs12938803 2018-11-29 30224653 Evangelou E 2018-09-17 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30224653 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Diastolic blood pressure 757,601 European ancestry individuals 249,262 European ancestry individuals 17p11.2 EPN2 EPN2, EPN2-AS1 ENSG00000072134, ENSG00000235397 rs12938803-T rs12938803 0 12938803 intron_variant 0 0.802 6E-14 13.221848749616356 0.1482 [0.11-0.19] mmHg increase Affymetrix, Illumina [~ 7100000] (imputed) N 57 rs62064364 17 43471489 rs4763 2017-11-30 29059683 Michailidou K 2017-10-23 Nature www.ncbi.nlm.nih.gov/pubmed/29059683 Association analysis identifies 65 new breast cancer risk loci. Breast cancer 76,192 European ancestry cases, 63,082 European ancestry controls 46,785 European ancestry cases, 42,892 European ancestry controls, 14,068 East Asian ancestry cases, 13,104 East Asian ancestry controls 17q21.31 NR ARHGAP27, ARHGAP27, ARHGAP27 ENSG00000276836, ENSG00000276907, ENSG00000159314 rs4763-A rs4763 0 4763 3_prime_UTR_variant 0 0.1745 2E-8 7.698970004336019 (EA) 0.0464 [0.03-0.063] unit decrease Illumina [~ 11800000] (imputed) N 57 rs62064364 17 43474668 rs62064598 2019-05-02 30867560 Hill WD 2019-03-13 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30867560 Genetic contributions to two special factors of neuroticism are associated with affluence, higher intelligence, better health, and longer life. General factor of neuroticism 270,059 British ancestry individuals NA 17q21.31 ENSG00000267344 AC003070.1, ARHGAP27, ARHGAP27, ARHGAP27 ENSG00000267344, ENSG00000276836, ENSG00000276907, ENSG00000159314 rs62064598-C rs62064598 0 62064598 intron_variant 0 NR 3E-15 14.522878745280337 0.013541 [0.01-0.017] unit increase Affymetrix [18485882] (imputed) N 57 rs62064364 17 43488792 rs62064641 2018-10-31 29942085 Nagel M 2018-06-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29942085 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. Worry 348,219 European ancestry individuals NA 17q21.31 NR ARHGAP27, ARHGAP27, ARHGAP27 ENSG00000276836, ENSG00000276907, ENSG00000159314 rs62064641-C rs62064641 0 62064641 intron_variant 0 NR 2E-11 10.698970004336019 0.02055 [0.015-0.027] unit increase Affymetrix [10847151] (imputed) N 57 rs62064364 17 43488792 rs62064641 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. White blood cell count approximately 444,000 European ancestry individuals NA 17q21.31 ARHGAP27, ARHGAP27, ARHGAP27 ENSG00000276836, ENSG00000276907, ENSG00000159314 rs62064641-? rs62064641 0 62064641 intron_variant 0 NR 1E-13 13.0 NR [~ 8900000] (imputed) N 57 rs62064364 17 43513441 rs11012 2010-02-05 20070850 Edwards TL 2010-01-13 Ann Hum Genet www.ncbi.nlm.nih.gov/pubmed/20070850 Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Parkinson's disease 1,752 European ancestry cases, 1,745 European ancestry controls NA 17q21.31 MAPT, PLEKHM1, IMP5 PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs11012-T rs11012 0 11012 3_prime_UTR_variant 0 NR 6E-8 7.221848749616356 1.43 [1.27-1.61] Illumina [495715] (imputed) N 57 rs62064364 17 43516402 rs17631303 2013-08-02 23544013 Couch FJ 2013-03-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/23544013 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. Ovarian cancer in BRCA1 mutation carriers 683 European ancestry cases, 2,044 European ancestry controls 1,706 European ancestry cases, 10,258 European ancestry controls 17q21.31 NR PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs17631303-? rs17631303 0 17631303 intron_variant 0 NR 1E-8 8.0 Illumina [2568349] (imputed) N 57 rs62064364 17 43516402 rs17631303 2013-08-02 23544013 Couch FJ 2013-03-27 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/23544013 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. Ovarian cancer in BRCA1 mutation carriers 683 European ancestry cases, 2,044 European ancestry controls 1,706 European ancestry cases, 10,258 European ancestry controls 17q21.31 intergenic PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs17631303-G rs17631303 0 17631303 intron_variant 0 0.19 1E-8 8.0 1.27 [1.17-1.38] Illumina [2568349] (imputed) N 57 rs62064364 17 43555253 rs56192752 2018-10-19 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (years of education) up to 1,131,881 European ancestry individuals NA 17q21.31 PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs56192752-A rs56192752 0 56192752 3_prime_UTR_variant 0 0.8218 9E-31 30.045757490560675 (conditional-joint) 0.0218 [0.018-0.026] unit increase Affymetrix, Illumina [10000000] (imputed) N 57 rs62064364 17 43564222 rs144733372 2018-07-10 29559929 Amare AT 2018-03-06 Front Psychiatry www.ncbi.nlm.nih.gov/pubmed/29559929 Association of the Polygenic Scores for Personality Traits and Response to Selective Serotonin Reuptake Inhibitors in Patients with Major Depressive Disorder. Remission after SSRI treatment in MDD or neuroticism 865 individuals with SSRI response data, 170,911 individuals with personality trait data NA 17q21.31 PLEKHM1 PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs144733372-G rs144733372 1 9899111 intron_variant 0 NR 3E-11 10.522878745280337 NR [NR] (imputed) N 57 rs62064364 17 43564222 rs144733372 2018-12-03 28196072 Hagenaars SP 2017-02-14 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28196072 Genetic prediction of male pattern baldness. Male-pattern baldness 52,874 British ancestry males 17q21.31 ACBD4, ARHGAP27, FMNL1, HEXIM1, HEXIM2, MAP3K14, PLCD3, PLEKHM1, SPATA32 PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs144733372-G rs144733372 1 9899111 intron_variant 0 NR 2E-22 21.69897000433602 0.076714 NR unit decrease NR [NR] (imputed) N 57 rs62064364 17 43567337 rs1879586 2017-08-03 28346442 Phelan CM 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346442 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Invasive epithelial ovarian cancer 22,406 European ancestry cases, 40,941 European ancestry controls NA 17q21.31 NR PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs1879586-G rs1879586 0 1879586 intron_variant 0 0.181254 2E-13 12.698970004336019 1.1339011 [1.09660984313914-1.1724605092959] Illumina [11595112] (imputed) N 57 rs62064364 17 43567337 rs1879586 2017-08-03 28346442 Phelan CM 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346442 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Ovarian cancer in BRCA1 mutation carriers 2,933 European ancestry carrier cases, 16,103 European ancestry carrier controls NA 17q21.31 NR PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs1879586-G rs1879586 0 1879586 intron_variant 0 0.181254 7E-6 5.154901959985743 1.1804551 [1.0983093028467-1.26874471717965] Illumina [11595112] (imputed) N 57 rs62064364 17 43567337 rs1879586 2017-08-04 28346442 Phelan CM 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346442 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Epithelial ovarian cancer 16,924 European ancestry cases, 68,502 European ancestry controls NA 17q21.31 NR PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs1879586-G rs1879586 0 1879586 intron_variant 0 0.181254 2E-19 18.69897000433602 1.1611373 [1.12396655984348-1.19953742102822] Illumina [11595112] (imputed) N 57 rs62064364 17 43567337 rs1879586 2017-08-07 28346442 Phelan CM 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346442 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. High-grade serous ovarian cancer 13,037 European ancestry cases, 40,941 European ancestry controls NA 17q21.31 NR PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs1879586-G rs1879586 0 1879586 intron_variant 0 0.181254 3E-13 12.522878745280337 1.1585579 [1.11378456264581-1.20513099189349] Illumina [11595112] (imputed) N 57 rs62064364 17 43567337 rs1879586 2017-08-07 28346442 Phelan CM 2017-03-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28346442 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Serous invasive ovarian cancer 14,049 European ancestry cases, 40,941 European ancestry controls NA 17q21.31 NR PLEKHM1, PLEKHM1, PLEKHM1 ENSG00000276358, ENSG00000225190, ENSG00000277111 rs1879586-G rs1879586 0 1879586 intron_variant 0 0.181254 3E-12 11.522878745280337 1.1472089 [1.10406141518038-1.19204274035159] Illumina [11595112] (imputed) N 57 rs62064364 17 43569245 rs113322852 2019-03-18 30643256 Baselmans BML 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643256 Multivariate genome-wide analyses of the well-being spectrum. Neuroticism 523,783 European ancestry individuals 59,206 European ancestry individuals 17q21.31 NR PLEKHM1 - LRRC37A4P ENSG00000277111 ENSG00000282331 1130 14862 rs113322852-A rs113322852 0 113322852 intergenic_variant 1 0.190284825959502 3E-19 18.522878745280337 0.021021854 [0.016-0.026] unit increase NR [NR] N 57 rs62064364 17 43569909 rs146746174 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Cognitive performance 257,841 European ancestry individuals NA 17q21.31 Intergenic PLEKHM1 - LRRC37A4P ENSG00000277111 ENSG00000282331 1794 14198 rs146746174-T rs146746174 1 62065449 intergenic_variant 1 0.815 1E-12 12.0 0.0263 [0.019-0.034] unit increase Affymetrix, Illumina [10100000] (imputed) N 57 rs62064364 17 43569909 rs146746174 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Cognitive performance (MTAG) 402,382 European ancestry individuals NA 17q21.31 Intergenic PLEKHM1 - LRRC37A4P ENSG00000277111 ENSG00000282331 1794 14198 rs146746174-T rs146746174 1 62065449 intergenic_variant 1 0.815 1E-23 23.0 (MTAG) 0.0297 [0.024-0.036] unit increase Affymetrix, Illumina [7100000] (imputed) N 57 rs62064364 17 43569909 rs146746174 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Self-reported math ability (MTAG) 670,471 European ancestry individuals NA 17q21.31 Intergenic PLEKHM1 - LRRC37A4P ENSG00000277111 ENSG00000282331 1794 14198 rs146746174-T rs146746174 1 62065449 intergenic_variant 1 0.8153 3E-15 14.522878745280337 (MTAG) 0.0182 [0.014-0.023] unit increase Affymetrix, Illumina [7100000] (imputed) N 57 rs62064364 17 43573419 rs62065453 2018-02-01 29255261 Luciano M 2017-12-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29255261 Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism. Neuroticism 329,821 European ancestry individuals 122,867 European ancestry individuals 17q21.31 intergenic PLEKHM1 - LRRC37A4P ENSG00000277111 ENSG00000282331 5304 10688 rs62065453-T rs62065453 0 62065453 intergenic_variant 1 0.21717 2E-24 23.69897000433602 10.227 z score increase Illumina [18485882] (imputed) N 57 rs62064364 17 43573419 rs62065453 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling nervous 373,121 European ancestry individuals NA 17q21.31 NR PLEKHM1 - LRRC37A4P ENSG00000277111 ENSG00000282331 5304 10688 rs62065453-T rs62065453 0 62065453 intergenic_variant 1 0.217174 6E-15 14.221848749616356 7.81 z score increase NR [10847151] (imputed) N 57 rs62064364 17 43573419 rs62065453 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Irritable mood 366,726 European ancestry individuals NA 17q21.31 NR PLEKHM1 - LRRC37A4P ENSG00000277111 ENSG00000282331 5304 10688 rs62065453-T rs62065453 0 62065453 intergenic_variant 1 0.217174 3E-12 11.522878745280337 6.99 z score increase NR [~ 10847151] (imputed) N 57 rs62064364 17 43654468 rs62064364 2019-01-28 30535121 Gao XR 2018-12-07 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/30535121 Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort. Macular thickness 59,814 European ancestry individuals 8,609 European ancestry individuals 17q21.31 LRRC37A4P, MAPK8IP1P2 AC091132.4 - DND1P1 ENSG00000267198 ENSG00000282614 13872 8769 rs62064364-? rs62064364 0 62064364 intron_variant 1 NR 4E-35 34.39794000867204 0.978 [0.81-1.14] unit decrease Affymetrix [11100000] (imputed) N 57 rs62064364 17 43659975 rs2668680 2019-03-28 30643251 Liu M 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643251 Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. Alcohol consumption (drinks per week) (MTAG) up to 1,039,210 European ancestry individuals NA 17q21.31 NR AC091132.4 - DND1P1 ENSG00000267198 ENSG00000282614 19379 3262 rs2668680-C rs2668680 0 2668680 intron_variant 1 0.177 4E-19 18.397940008672037 0.0174888 [0.014-0.021] unit decrease NR [~ 9732723] (imputed) N 57 rs62064364 17 43666492 rs112010353 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Self-reported math ability 564,698 European ancestry individuals NA 17q21.31 Intergenic AC126544.2 - AC126544.1 ENSG00000285668 ENSG00000280022 747 3495 rs112010353-C rs112010353 0 112010353 intergenic_variant 1 0.8237 2E-8 7.698970004336019 0.0143 [0.0092-0.0194] unit increase Affymetrix, Illumina [10000000] (imputed) N 57 rs62064364 17 43682323 rs186806998 2018-11-01 30061609 Wyss AB 2018-07-30 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30061609 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. Lung function (FEV1) 60,552 European ancestry individuals, 8,429 African individuals, 9,959 Korean ancestry individuals, 11,775 Hispanic individuals 17q21.31 CRHR1 MAPK8IP1P2 - RPS26P8 ENSG00000263503 ENSG00000282238 2617 3614 rs186806998-T rs186806998 1 56383763 intergenic_variant 1 0.79 1E-9 9.0 (EA) 36.39 [24.71-48.07] unit increase Affymetrix, Illumina [10900000] (imputed) N 57 rs62064364 17 43682323 rs186806998 2018-11-01 30061609 Wyss AB 2018-07-30 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30061609 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. Lung function (FEV1) 60,552 European ancestry individuals, 8,429 African individuals, 9,959 Korean ancestry individuals, 11,775 Hispanic individuals 17q21.31 LOC644172, CRHR1 MAPK8IP1P2 - RPS26P8 ENSG00000263503 ENSG00000282238 2617 3614 rs186806998-T rs186806998 1 56383763 intergenic_variant 1 0.82 3E-10 9.522878745280337 29.5 [20.29-38.71] ml increase Affymetrix, Illumina [10900000] (imputed) N 57 rs62064364 17 43682323 rs186806998 2018-11-01 30061609 Wyss AB 2018-07-30 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30061609 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. Lung function (FVC) 60,552 European ancestry individuals, 8,429 African individuals, 9,959 Korean ancestry individuals, 11,775 Hispanic individuals 17q21.31 MAPK8IP1P2 - RPS26P8 ENSG00000263503 ENSG00000282238 2617 3614 rs186806998-? rs186806998 1 56383763 intergenic_variant 1 NR 1E-8 8.0 30.52 [20.01-41.03] unit increase Affymetrix, Illumina [10900000] (imputed) N 57 rs62064364 17 43685698 rs143246821 2018-11-01 30061609 Wyss AB 2018-07-30 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30061609 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. Lung function (FEV1) 60,552 European ancestry individuals, 8,429 African individuals, 9,959 Korean ancestry individuals, 11,775 Hispanic individuals 17q21.31 LOC644172, CRHR1 MAPK8IP1P2 - RPS26P8 ENSG00000263503 ENSG00000282238 5992 239 rs143246821-A rs143246821 1 444967 intergenic_variant 1 0.79 9E-10 9.045757490560675 (EA) 30.58 [20.8-40.36] ml increase Affymetrix, Illumina [10900000] (imputed) N 57 rs62064364 17 43685698 rs143246821 2018-11-01 30061609 Wyss AB 2018-07-30 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30061609 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. Lung function (FVC) 60,552 European ancestry individuals, 8,429 African individuals, 9,959 Korean ancestry individuals, 11,775 Hispanic individuals 17q21.31 MAPK8IP1P2 - RPS26P8 ENSG00000263503 ENSG00000282238 5992 239 rs143246821-? rs143246821 1 444967 intergenic_variant 1 NR 7E-8 7.154901959985743 (EA) 30.54 [19.45-41.63] unit increase Affymetrix, Illumina [10900000] (imputed) N 57 rs62064364 17 43688317 rs28768976 2018-02-01 29255261 Luciano M 2017-12-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29255261 Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism. Neuroticism 329,821 European ancestry individuals 122,867 European ancestry individuals 17q21.31 intergenic RPS26P8 - LINC02210 ENSG00000282238 ENSG00000204650 2033 9377 rs28768976-A rs28768976 0 28768976 intergenic_variant 1 0.77211 1E-25 25.0 10.453 z score decrease Illumina [18485882] (imputed) N 57 rs62064364 17 43696159 rs675600 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Granulocyte count 169,822 European ancestry individuals NA 17q21.31 CRHR1-IT1, CRHR1, RP11-105N13.4 RPS26P8 - LINC02210 ENSG00000282238 ENSG00000204650 9875 1535 rs675600-T rs675600 0 675600 intergenic_variant 1 0.2046 5E-9 8.301029995663981 0.02673918 [0.018-0.036] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 43696159 rs675600 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Myeloid white cell count 169,219 European ancestry individuals NA 17q21.31 CRHR1-IT1, CRHR1, RP11-105N13.4 RPS26P8 - LINC02210 ENSG00000282238 ENSG00000204650 9875 1535 rs675600-T rs675600 0 675600 intergenic_variant 1 0.2046 3E-9 8.522878745280337 0.02733148 [0.018-0.036] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 43696159 rs675600 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Neutrophil count 170,702 European ancestry individuals NA 17q21.31 CRHR1-IT1, CRHR1, RP11-105N13.4 RPS26P8 - LINC02210 ENSG00000282238 ENSG00000204650 9875 1535 rs675600-T rs675600 0 675600 intergenic_variant 1 0.2045 3E-11 10.522878745280337 0.03035789 [0.021-0.039] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 43696159 rs675600 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Sum basophil neutrophil counts 170,143 European ancestry individuals NA 17q21.31 CRHR1-IT1, CRHR1, RP11-105N13.4 RPS26P8 - LINC02210 ENSG00000282238 ENSG00000204650 9875 1535 rs675600-T rs675600 0 675600 intergenic_variant 1 0.2046 2E-11 10.698970004336019 0.03056096 [0.022-0.04] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 43696159 rs675600 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Sum neutrophil eosinophil counts 170,384 European ancestry individuals NA 17q21.31 CRHR1-IT1, CRHR1, RP11-105N13.4 RPS26P8 - LINC02210 ENSG00000282238 ENSG00000204650 9875 1535 rs675600-T rs675600 0 675600 intergenic_variant 1 0.2045 6E-9 8.221848749616356 0.02652443 [0.018-0.035] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 43705601 rs365825 2017-05-11 27182965 Pickrell JK 2016-05-16 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27182965 Detection and interpretation of shared genetic influences on 42 human traits. Parkinson's disease 9,619 European ancestry cases, 324,522 European ancestry controls NA 17q21.31 CRHR1, LRRC37A3 LINC02210, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000204650, ENSG00000263715, ENSG00000282456 rs365825-? rs365825 0 365825 intron_variant 0 NR 4E-32 31.397940008672037 1.2722646 [1.22-1.33] Illumina [12438219] (imputed) N 57 rs62064364 17 43714850 rs2942168 2015-04-20 21292315 Nalls MA 2011-02-01 Lancet www.ncbi.nlm.nih.gov/pubmed/21292315 Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Parkinson's disease 5,333 European ancestry cases, 12,019 European ancestry controls 7,053 cases, 9,007 controls 17q21.31 MAPT LINC02210-CRHR1, LINC02210-CRHR1, LINC02210 ENSG00000263715, ENSG00000282456, ENSG00000204650 rs2942168-G rs2942168 0 2942168 non_coding_transcript_exon_variant 0 0.78 1E-28 28.0 1.27 [1.23-1.31] Illumina [7689524] (imputed) N 57 rs62064364 17 43719143 rs393152 2009-12-10 19915575 Simon-Sanchez J 2009-11-15 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19915575 Genome-wide association study reveals genetic risk underlying Parkinson's disease. Parkinson's disease 1,713 European ancestry cases, 3,978 European ancestry controls 3,361 European ancestry cases, 4,573 European ancestry controls 17q21.31 MAPT, C17orf69, KIAA1267, LOC644246 LINC02210, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000204650, ENSG00000263715, ENSG00000282456 rs393152-A rs393152 0 393152 non_coding_transcript_exon_variant 0 0.82 2E-16 15.698970004336019 1.3 [NR] Illumina [463185] N 57 rs62064364 17 43719143 rs393152 2016-07-08 26077951 Kouri N 2015-06-16 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26077951 Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. Corticobasal degeneration 152 cases, 3,111 controls 67 cases, 457 controls 17q21.31 MAPT LINC02210, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000204650, ENSG00000263715, ENSG00000282456 rs393152-? rs393152 0 393152 non_coding_transcript_exon_variant 0 NR 1E-12 12.0 3.7 [NR] Illumina [533898] (imputed) N 57 rs62064364 17 43728376 rs417968 2019-02-06 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Educational attainment (years of education) approximately 455,000 European ancestry individuals NA 17q21.31 LINC02210, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000204650, ENSG00000263715, ENSG00000282456 rs417968-? rs417968 0 417968 non_coding_transcript_exon_variant 0 NR 6E-16 15.221848749616356 NR [~ 8900000] (imputed) N 57 rs62064364 17 43731719 rs241036 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Experiencing mood swings 373,733 European ancestry individuals NA 17q21.31 NR LINC02210, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000204650, ENSG00000263715, ENSG00000282456 rs241036-A rs241036 0 241036 non_coding_transcript_exon_variant 0 0.217056 8E-20 19.096910013008056 9.11 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 43731719 rs241036 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Menarche (age at onset) approximately 242,000 European ancestry individuals NA 17q21.31 LINC02210, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000204650, ENSG00000263715, ENSG00000282456 rs241036-? rs241036 0 241036 non_coding_transcript_exon_variant 0 NR 7E-13 12.154901959985743 NR [~ 8900000] (imputed) N 57 rs62064364 17 43744203 rs62053943 2019-05-02 30867560 Hill WD 2019-03-13 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30867560 Genetic contributions to two special factors of neuroticism are associated with affluence, higher intelligence, better health, and longer life. General factor of neuroticism 270,059 British ancestry individuals NA 17q21.31 RP11-105N13.4 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs62053943-C rs62053943 0 62053943 intron_variant 0 NR 4E-14 13.397940008672037 0.012948 [0.0096-0.0163] unit increase Affymetrix [18485882] (imputed) N 57 rs62064364 17 43758787 rs62055701 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Irritable mood 366,726 European ancestry individuals NA 17q21.31 NR LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs62055701-A rs62055701 0 62055701 intron_variant 0 0.214491 6E-13 12.221848749616356 7.19 z score increase NR [~ 10847151] (imputed) N 57 rs62064364 17 43776741 rs76761706 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Neurociticism 380,506 European ancestry individuals NA 17q21.31 NR LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs76761706-T rs76761706 0 76761706 intron_variant 0 0.215553 7E-32 31.154901959985743 11.76 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 43778680 rs17688916 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling worry 372,869 European ancestry individuals NA 17q21.31 SPATA32 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs17688916-A rs17688916 0 17688916 intron_variant 0 0.196725 3E-11 10.522878745280337 6.653 unit increase NR [10847151] (imputed) N 57 rs62064364 17 43778680 rs17688916 2019-04-12 30846698 Dashti HS 2019-03-07 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30846698 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates. Sleep duration (long sleep) 34,184 European ancestry cases, 305,742 European ancestry controls 47,180 adults, 10,554 children or adolescents 17q21.31 KIAA1267, LOC644246 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs17688916-T rs17688916 0 17688916 intron_variant 0 NR 1E-11 11.0 1.074 Affymetrix [14661600] (imputed) N 57 rs62064364 17 43810873 rs75022332 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Worry too long after an embarrassing experience 367,725 European ancestry individuals NA 17q21.31 ACBD4 LINC02210-CRHR1, LINC02210-CRHR1, AC217774.2 ENSG00000263715, ENSG00000282456, ENSG00000265964 rs75022332-A rs75022332 0 75022332 non_coding_transcript_exon_variant 0 0.213608 2E-8 7.698970004336019 5.62 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 43810896 rs77804065 2018-02-01 29255261 Luciano M 2017-12-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29255261 Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism. Neuroticism 329,821 European ancestry individuals 122,867 European ancestry individuals 17q21.31 ARHGAP27, CRHR1, KANSL1, MAPT, PLEKHM1, SPPL2C, STH LINC02210-CRHR1, LINC02210-CRHR1, AC217774.2 ENSG00000263715, ENSG00000282456, ENSG00000265964 rs77804065-T rs77804065 0 77804065 splice_region_variant 0 0.21716 8E-26 25.096910013008056 10.503 z score increase Illumina [18485882] (imputed) N 57 rs62064364 17 43810896 rs77804065 2018-03-01 29397368 Meng W 2018-01-31 EBioMedicine www.ncbi.nlm.nih.gov/pubmed/29397368 A Genome-Wide Association Study Finds Genetic Associations with Broadly-Defined Headache in UK Biobank (N=223,773). Headache 74,461 British ancestry cases, 149,321 British ancestry controls NA 17q21.31 LINC02210, CRHR1, MAPT LINC02210-CRHR1, LINC02210-CRHR1, AC217774.2 ENSG00000263715, ENSG00000282456, ENSG00000265964 rs77804065-T rs77804065 0 77804065 splice_region_variant 0 NR 6E-15 14.221848749616356 0.013 [0.0097-0.0163] unit increase Affymetrix [9304965] (imputed) N 57 rs62064364 17 43810896 rs77804065 2018-10-31 29942085 Nagel M 2018-06-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29942085 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. Neuroticism 449,484 European ancestry individuals NA 17q21.31 NR LINC02210-CRHR1, LINC02210-CRHR1, AC217774.2 ENSG00000263715, ENSG00000282456, ENSG00000265964 rs77804065-T rs77804065 0 77804065 splice_region_variant 0 NR 1E-31 31.0 11.693 z score increase Affymetrix [10847151] (imputed) N 57 rs62064364 17 43810896 rs77804065 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling guilty 373,380 European ancestry individuals NA 17q21.31 ACBD4 LINC02210-CRHR1, LINC02210-CRHR1, AC217774.2 ENSG00000263715, ENSG00000282456, ENSG00000265964 rs77804065-T rs77804065 0 77804065 splice_region_variant 0 0.217158 6E-10 9.221848749616356 6.18 z score increase NR [10847151] (imputed) N 57 rs62064364 17 43811072 rs17563683 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Hematocrit 173,039 European ancestry individuals NA 17q21.31 CRHR1, RP11-105N13.4, RP11-293E1.1 AC217774.2, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000265964, ENSG00000263715, ENSG00000282456 rs17563683-G rs17563683 0 17563683 intron_variant 0 0.2333 2E-28 27.69897000433602 0.04515636 [0.037-0.053] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 43811072 rs17563683 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Hemoglobin concentration 172,925 European ancestry individuals NA 17q21.31 CRHR1, RP11-105N13.4, RP11-293E1.1 AC217774.2, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000265964, ENSG00000263715, ENSG00000282456 rs17563683-G rs17563683 0 17563683 intron_variant 0 0.2333 3E-26 25.522878745280337 0.04344178 [0.035-0.051] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 43824360 rs7207400 2016-02-03 25778476 Jun G 2015-03-17 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/25778476 A novel Alzheimer disease locus located near the gene encoding tau protein. Alzheimer's disease in APOE e4- carriers 7,184 cases, 26,968 controls 718 European ancestry cases, 1,699 European ancestry controls 17q21.31 CRHR1 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs7207400-T rs7207400 0 7207400 intron_variant 0 0.75 5E-6 5.301029995663981 1.1363636 [1.08-1.2] NR [NR] N 57 rs62064364 17 43824360 rs7207400 2018-10-31 29942085 Nagel M 2018-06-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29942085 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. Worry 348,219 European ancestry individuals NA 17q21.31 NR LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs7207400-C rs7207400 0 7207400 intron_variant 0 NR 2E-15 14.698970004336019 0.02119 [0.016-0.026] unit increase Affymetrix [10847151] (imputed) N 57 rs62064364 17 43826637 rs12150672 2017-05-11 28017375 van Rooij FJA 2016-12-22 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/28017375 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. Red blood cell count up to 40,258 European ancestry individuals, up to 16,128 African American individuals, up to 15,252 East Asian individuals. 16,389 individuals of European and African American ancestry. 17q21.31 NR LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs12150672-? rs12150672 0 12150672 intron_variant 0 NR 4E-9 8.397940008672037 NR [2500000] (imputed) N 57 rs62064364 17 43830938 rs17426174 2018-02-23 29326435 Hill WD 2018-01-11 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/29326435 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. Intelligence (MTAG) 120,934 British ancestry individuals, 127,548 individuals NA 17q21.31 RP11-105N13.4 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs17426174-C rs17426174 0 17426174 intron_variant 0 NR 6E-11 10.221848749616356 0.023148796 [0.016-0.03] unit decrease Affymetrix [NR] N 57 rs62064364 17 43836953 rs56214516 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling fed-up 374,971 European ancestry individuals NA 17q21.31 NR LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs56214516-A rs56214516 0 56214516 intron_variant 0 0.189219 1E-16 16.0 8.27 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 43844560 rs55657917 2018-08-16 29899525 Klimentidis YC 2018-06-13 Int J Obes (Lond) www.ncbi.nlm.nih.gov/pubmed/29899525 Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE. Accelerometer-based physical activity measurement (average acceleration) 91,084 European ancestry individuals NA 17q21.31 CRHR1 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs55657917-T rs55657917 0 55657917 intron_variant 0 0.78 5E-12 11.301029995663981 0.3 milli-gravities decrease Affymetrix [11800000] (imputed) N 57 rs62064364 17 43844560 rs55657917 2019-01-18 30531941 Doherty A 2018-12-10 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30531941 GWAS identifies 14 loci for device-measured physical activity and sleep duration. Physical activity (overall physical activity time) 91,105 European ancestry individuals NA 17q21.31 LINC02210-CRHR1 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs55657917-T rs55657917 0 55657917 intron_variant 0 0.779584 8E-12 11.096910013008056 0.036815435 [0.026-0.047] SD units decrease NR [9926106] (imputed) N 57 rs62064364 17 43844560 rs55657917 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Experiencing mood swings 373,733 European ancestry individuals NA 17q21.31 HOXB2 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs55657917-T rs55657917 0 55657917 intron_variant 0 0.213403 3E-20 19.522878745280337 9.23 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 43844560 rs55657917 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling hurt 372,047 European ancestry individuals NA 17q21.31 HOXB2 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs55657917-T rs55657917 0 55657917 intron_variant 0 0.213403 7E-29 28.154901959985743 11.16 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 43848750 rs62055935 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling nervous 373,121 European ancestry individuals NA 17q21.31 NR LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs62055935-T rs62055935 0 62055935 intron_variant 0 0.214475 2E-15 14.698970004336019 7.97 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 43849415 rs79730878 2019-01-28 30598549 Morris JA 2018-12-31 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30598549 An atlas of genetic influences on osteoporosis in humans and mice. Heel bone mineral density 426,824 British ancestry individuals NA 17q21.31 CRHR1-IT1-CRHR1 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs79730878-T rs79730878 0 79730878 intron_variant 0 0.771203 6E-20 19.221848749616356 0.0202142 [0.016-0.025] unit increase NR [13737936] (imputed) N 57 rs62064364 17 43850932 rs113518470 2017-05-11 27182965 Pickrell JK 2016-05-16 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27182965 Detection and interpretation of shared genetic influences on 42 human traits. Joint mobility (Beighton score) 64,143 European ancestry individuals NA 17q21.31 LRRC37A3, CRHR1 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs113518470-? rs113518470 0 113518470 intron_variant 0 NR 6E-11 10.221848749616356 0.09 [0.116-0.063] unit decrease Illumina [12039492] (imputed) N 57 rs62064364 17 43853922 rs56303031 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Heel bone mineral density approximately 446,000 European ancestry individuals NA 17q21.31 LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs56303031-? rs56303031 0 56303031 intron_variant 0 NR 6E-24 23.221848749616356 NR [~ 8900000] (imputed) N 57 rs62064364 17 43856639 rs62057061 2018-10-31 29942085 Nagel M 2018-06-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29942085 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. Depressed affect 357,957 European ancestry individuals NA 17q21.31 NR LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs62057061-G rs62057061 0 62057061 intron_variant 0 NR 2E-22 21.69897000433602 0.02689 [0.021-0.032] unit increase Affymetrix [10847151] (imputed) N 57 rs62064364 17 43857989 rs111433752 2016-12-13 27067015 Smith DJ 2016-04-12 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/27067015 Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci. Neuroticism 91,370 European ancestry individuals, 15,346 individuals NA 17q21.31 Intergenic LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000263715, ENSG00000282456 rs111433752-T rs111433752 0 111433752 intron_variant 0 0.79 9E-12 11.045757490560675 0.12 [0.085-0.155] unit decrease Affymetrix [7207648] (imputed) N 57 rs62064364 17 43871982 rs56319902 2018-10-19 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (years of education) up to 1,131,881 European ancestry individuals NA 17q21.31 CRHR1, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000278232, ENSG00000263715, ENSG00000282456 rs56319902-T rs56319902 0 56319902 intron_variant 0 0.2155 6E-33 32.221848749616356 0.0206 [0.017-0.024] unit decrease Affymetrix, Illumina [10000000] (imputed) N 57 rs62064364 17 43893716 rs8072451 2015-11-03 25607358 Hibar DP 2015-01-21 Nature www.ncbi.nlm.nih.gov/pubmed/25607358 Common genetic variants influence human subcortical brain structures. Subcortical brain region volumes up to 13,171 European ancestry individuals up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals 17q21.31 MAPT, GRN, CRHR1, STH CRHR1, LINC02210-CRHR1, LINC02210-CRHR1, MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000278232, ENSG00000263715, ENSG00000282456, ENSG00000264589, ENSG00000281578, ENSG00000282067 rs8072451-? rs8072451 0 8072451 intron_variant 0 NR 1E-8 8.0 (Intracranial volume, EA) 14489.99 [9539.28-19440.70] unit decrease Affymetrix, Illumina [NR] (imputed) N 57 rs62064364 17 43896032 rs62057107 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (MTAG) 1,311,438 European ancestry individuals NA 17q21.31 Intergenic MAPT-AS1, MAPT-AS1, MAPT-AS1, CRHR1, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000264589, ENSG00000281578, ENSG00000282067, ENSG00000278232, ENSG00000263715, ENSG00000282456 rs62057107-T rs62057107 0 62057107 intron_variant 0 0.2192 5E-38 37.30102999566398 (MTAG) 0.0209 [0.018-0.024] unit decrease Affymetrix, Illumina [7100000] (imputed) N 57 rs62064364 17 43896032 rs62057107 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Highest math class taken (MTAG) 811,539 European ancestry individuals NA 17q21.31 Intergenic MAPT-AS1, MAPT-AS1, MAPT-AS1, CRHR1, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000264589, ENSG00000281578, ENSG00000282067, ENSG00000278232, ENSG00000263715, ENSG00000282456 rs62057107-T rs62057107 0 62057107 intron_variant 0 0.2219 4E-28 27.397940008672037 (MTAG) 0.022 [0.018-0.026] unit decrease Affymetrix, Illumina [7100000] (imputed) N 57 rs62064364 17 43902541 rs4327090 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Highest math class taken 430,445 European ancestry individuals NA 17q21.31 Intergenic CRHR1, MAPT-AS1, MAPT-AS1, MAPT-AS1, LINC02210-CRHR1, LINC02210-CRHR1 ENSG00000278232, ENSG00000264589, ENSG00000281578, ENSG00000282067, ENSG00000263715, ENSG00000282456 rs4327090-A rs4327090 0 4327090 intron_variant 0 0.8074 1E-10 10.0 0.0186 [0.013-0.024] unit increase Affymetrix, Illumina [10000000] (imputed) N 57 rs62064364 17 43903842 rs62057151 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling worry 372,869 European ancestry individuals NA 17q21.31 NR CRHR1, LINC02210-CRHR1, LINC02210-CRHR1, MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000278232, ENSG00000263715, ENSG00000282456, ENSG00000264589, ENSG00000281578, ENSG00000282067 rs62057151-T rs62057151 0 62057151 non_coding_transcript_exon_variant 0 0.223812 1E-9 9.0 6.049 unit increase NR [10847151] (imputed) N 57 rs62064364 17 43906828 rs17689882 2015-11-03 25607358 Hibar DP 2015-01-21 Nature www.ncbi.nlm.nih.gov/pubmed/25607358 Common genetic variants influence human subcortical brain structures. Subcortical brain region volumes up to 13,171 European ancestry individuals up to 15,130 European ancestry individuals, 545 Japanese ancestry individuals, 736 Mexican American individuals 17q21.31 CRHR1 CRHR1, LINC02210-CRHR1, LINC02210-CRHR1, MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000278232, ENSG00000263715, ENSG00000282456, ENSG00000264589, ENSG00000281578, ENSG00000282067 rs17689882-A rs17689882 0 17689882 intron_variant 0 0.22 8E-9 8.096910013008056 (Intracranial volume, EA) 13460.47 [8891.61-18029.33] mm3 decrease Affymetrix, Illumina [NR] (imputed) N 57 rs62064364 17 43915497 rs62054807 2019-05-02 30867560 Hill WD 2019-03-13 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30867560 Genetic contributions to two special factors of neuroticism are associated with affluence, higher intelligence, better health, and longer life. General factor of neuroticism 270,059 British ancestry individuals NA 17q21.31 CRHR1 MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs62054807-C rs62054807 0 62054807 intron_variant 0 NR 2E-16 15.698970004336019 0.014157 [0.011-0.018] unit increase Affymetrix [18485882] (imputed) N 57 rs62064364 17 43919096 rs2106786 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Red blood cell count 172,952 European ancestry individuals NA 17q21.31 SPPL2C MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs2106786-G rs2106786 0 2106786 non_coding_transcript_exon_variant 0 0.2242 3E-36 35.52287874528034 0.0537452 [0.045-0.062] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 43919105 rs2106785 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Irritable mood 366,726 European ancestry individuals NA 17q21.31 ACBD4 MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs2106785-T rs2106785 0 2106785 non_coding_transcript_exon_variant 0 0.213768 3E-13 12.522878745280337 7.29 z score increase NR [~ 10847151] (imputed) N 57 rs62064364 17 43923683 rs12185268 2011-07-20 21738487 Do CB 2011-06-23 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/21738487 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. Parkinson's disease 3,426 European ancestry cases, 29,624 European ancestry controls NA 17q21.31 MAPT MAPT-AS1, MAPT-AS1, MAPT-AS1, SPPL2C, SPPL2C, SPPL2C ENSG00000264589, ENSG00000281578, ENSG00000282067, ENSG00000277106, ENSG00000185294, ENSG00000278194 rs12185268-A rs12185268 0 12185268 missense_variant 0 0.79 3E-14 13.522878745280337 1.3 [1.22-1.39] Illumina [522782] N 57 rs62064364 17 43923683 rs12185268 2016-07-08 26077951 Kouri N 2015-06-16 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26077951 Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. Corticobasal degeneration 152 cases, 1,986 controls NA 17q21.31 MAPT MAPT-AS1, MAPT-AS1, MAPT-AS1, SPPL2C, SPPL2C, SPPL2C ENSG00000264589, ENSG00000281578, ENSG00000282067, ENSG00000277106, ENSG00000185294, ENSG00000278194 rs12185268-? rs12185268 0 12185268 missense_variant 0 NR 1E-9 9.0 3.46 [2.27-5.28] Illumina [533898] (imputed) N 57 rs62064364 17 43924200 rs12373142 2019-05-01 30804561 Sakornsakolpat P 2019-02-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30804561 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations. Chronic obstructive pulmonary disease 35,735 cases, 222,076 controls NA 17q21.31 SPPL2C MAPT-AS1, MAPT-AS1, MAPT-AS1, SPPL2C, SPPL2C, SPPL2C ENSG00000264589, ENSG00000281578, ENSG00000282067, ENSG00000277106, ENSG00000185294, ENSG00000278194 rs12373142-G rs12373142 0 12373142 missense_variant 0 0.22 1E-9 9.0 1.08 [1.05-1.10] Affymetrix, Illumina [6224355] (imputed) N 57 rs62064364 17 43924219 rs12373124 2012-08-15 22693459 Li R 2012-05-31 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/22693459 Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. Male-pattern baldness 3,891 European ancestry cases, 8,915 European ancestry controls NA 17q21.31 intergenic SPPL2C, SPPL2C, SPPL2C, MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000277106, ENSG00000185294, ENSG00000278194, ENSG00000264589, ENSG00000281578, ENSG00000282067 rs12373124-T rs12373124 0 12373124 synonymous_variant 0 0.438 5E-10 9.301029995663981 1.33 [1.21-1.45] Affymetrix, Illumina [2391230] (imputed) N 57 rs62064364 17 43924219 rs12373124 2018-12-03 28196072 Hagenaars SP 2017-02-14 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28196072 Genetic prediction of male pattern baldness. Male-pattern baldness 52,874 British ancestry males 17q21.31 NR SPPL2C, SPPL2C, SPPL2C, MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000277106, ENSG00000185294, ENSG00000278194, ENSG00000264589, ENSG00000281578, ENSG00000282067 rs12373124-C rs12373124 0 12373124 synonymous_variant 0 NR 1E-27 27.0 0.08 NR unit decrease NR [NR] (imputed) N 57 rs62064364 17 43925297 rs17690703 2014-08-06 24429156 Noth I 2013-04-17 Lancet Respir Med www.ncbi.nlm.nih.gov/pubmed/24429156 Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study. Idiopathic pulmonary fibrosis 542 European ancestry cases, 542 European ancestry controls 868 European ancestry cases, 1,389 European ancestry controls 17q21.31 SPPL2C, KANSL1, MAPT, CRHR1, STH MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs17690703-C rs17690703 0 17690703 intron_variant 0 0.76 6E-9 8.221848749616356 1.43 [1.27-1.61] Affymetrix [10601812] (imputed) N 57 rs62064364 17 43927290 rs17769552 2018-07-09 29691431 Tikkanen E 2018-04-24 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29691431 Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank. Hand grip strength 334,825 British ancestry individuals NA 17q21.31 SPPL2C MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs17769552-A rs17769552 0 17769552 intron_variant 0 0.2235 2E-8 7.698970004336019 0.002 [0.0014-0.0026] unit decrease Affymetrix [15275733] (imputed) N 57 rs62064364 17 43940021 rs79412431 2019-03-27 30804560 Shrine N 2019-02-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30804560 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. FEV1 321,047 European ancestry individuals 79,005 European ancestry individuals 17q21.31 MAPT-AS1 MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs79412431-A rs79412431 0 79412431 intron_variant 0 0.2161 3E-49 48.52287874528034 0.0426 [0.037-0.048] unit decrease Affymetrix [19819130] (imputed) N 57 rs62064364 17 43940021 rs79412431 2019-03-27 30804560 Shrine N 2019-02-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30804560 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. Lung function (FVC) 321,047 European ancestry individuals 79,005 European ancestry individuals 17q21.31 MAPT-AS1 MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs79412431-A rs79412431 0 79412431 intron_variant 0 0.2161 3E-46 45.52287874528034 0.0415 [0.036-0.047] unit decrease Affymetrix [19819130] (imputed) N 57 rs62064364 17 43940021 rs79412431 2019-03-27 30804560 Shrine N 2019-02-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30804560 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. Peak expiratory flow 321,047 European ancestry individuals 24,218 European ancestry individuals 17q21.31 MAPT-AS1 MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs79412431-A rs79412431 0 79412431 intron_variant 0 0.2161 6E-15 14.221848749616356 0.0239 [0.018-0.03] unit decrease Affymetrix [19819130] (imputed) N 57 rs62064364 17 43950976 rs10491140 2018-10-18 30048462 Kim SK 2018-07-26 PLoS One www.ncbi.nlm.nih.gov/pubmed/30048462 Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture. Heel bone mineral density 394,929 European ancestry individuals NA 17q21.31 MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs10491140-? rs10491140 0 10491140 intron_variant 0 NR 3E-26 25.522878745280337 0.0257143 [0.021-0.031] unit increase Affymetrix [20259828] (imputed) N 57 rs62064364 17 43953719 rs2214258 2018-02-01 29255261 Luciano M 2017-12-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29255261 Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism. Neuroticism 329,821 European ancestry individuals 122,867 European ancestry individuals 17q21.31 intergenic MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs2214258-C rs2214258 0 2214258 intron_variant 0 0.21533 2E-25 24.69897000433602 10.415 z score increase Illumina [18485882] (imputed) N 57 rs62064364 17 43964539 rs62055544 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling fed-up 374,971 European ancestry individuals NA 17q21.31 NR MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs62055544-A rs62055544 0 62055544 intron_variant 0 0.216596 5E-16 15.301029995663981 8.1 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 43964567 rs62055546 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Alcohol consumption (drinks per week) 414,343 European ancestry individuals NA 17q21.31 MAPT MAPT-AS1, MAPT-AS1, MAPT-AS1 ENSG00000264589, ENSG00000281578, ENSG00000282067 rs62055546-A rs62055546 0 62055546 intron_variant 0 0.7779 8E-25 24.096910013008056 0.027622232 [0.022-0.033] unit increase Affymetrix [11514936] (imputed) N 57 rs62064364 17 43977827 rs1864325 2013-04-11 22504420 Estrada K 2012-04-15 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22504420 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Lumbar spine bone mineral density Up to 32,961 European and East Asian ancestry individuals Up to 50,933 European and East Asian ancestry individuals 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs1864325-T rs1864325 0 1864325 intron_variant 0 0.22 5E-11 10.301029995663981 0.04 [NR] unit decrease Affymetrix, Illumina [~ 2500000] (imputed) N 57 rs62064364 17 43991272 rs17563986 2018-01-12 29186694 Lam M 2017-11-28 Cell Rep www.ncbi.nlm.nih.gov/pubmed/29186694 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. Cognitive ability 107,207 European ancestry individuals NA 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs17563986-? rs17563986 0 17563986 intron_variant 0 NR 8E-8 7.096910013008056 5.368 z score increase Affymetrix, Illumina [7357080] (imputed) N 57 rs62064364 17 43991272 rs17563986 2018-01-12 29186694 Lam M 2017-11-28 Cell Rep www.ncbi.nlm.nih.gov/pubmed/29186694 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. Cognitive ability (MTAG) 436,124 European ancestry individuals NA 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs17563986-? rs17563986 0 17563986 intron_variant 0 NR 5E-12 11.301029995663981 6.905 z score increase Affymetrix, Illumina, Perlegen [7333576] (imputed) N 57 rs62064364 17 43991515 rs192818565 2017-02-24 27225129 Okbay A 2016-05-26 Nature www.ncbi.nlm.nih.gov/pubmed/27225129 Genome-wide association study identifies 74 loci associated with educational attainment. Educational attainment (years of education) 405,072 European ancestry individuals NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs192818565-T rs192818565 1 62056842 intron_variant 0 0.7988 2E-12 11.698970004336019 0.02045746 NR unit increase Affymetrix, Illumina, Perlegen [~ 9300000] (imputed) N 57 rs62064364 17 43991515 rs192818565 2017-02-25 27225129 Okbay A 2016-05-26 Nature www.ncbi.nlm.nih.gov/pubmed/27225129 Genome-wide association study identifies 74 loci associated with educational attainment. Educational attainment (college completion) 280,007 European ancestry individuals NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs192818565-T rs192818565 1 62056842 intron_variant 0 0.8097 5E-11 10.301029995663981 1.0534867 [NR] Affymetrix, Illumina, Perlegen [~ 9300000] (imputed) N 57 rs62064364 17 43994648 rs17649553 2015-05-09 25064009 Nalls MA 2014-07-27 Nat Genet www.ncbi.nlm.nih.gov/pubmed/25064009 Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Parkinson's disease 13,708 European ancestry cases, 95,282 European ancestry controls 5,353 European ancestry cases, 5,551 European ancestry controls 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs17649553-C rs17649553 0 17649553 intron_variant 0 0.774 2E-48 47.69897000433602 1.3 [1.27-1.34] Illumina [7893274] (imputed) N 57 rs62064364 17 43994648 rs17649553 2017-10-24 28892059 Chang D 2017-09-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28892059 A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. Parkinson's disease 20,184 European ancestry cases, 397,324 European ancestry controls 5,851 European ancestry cases, 5,866 European ancestry controls 17q21.31 ARHGAP27, CRHR1, KANSL1, SPPL2C, MAPT, STH MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs17649553-C rs17649553 0 17649553 intron_variant 0 0.779 1E-68 68.0 1.2820514 [1.25-1.32] Illumina [11933700] (imputed) N 57 rs62064364 17 44006601 rs17564829 2018-05-14 22961000 Liu JZ 2012-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22961000 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. Primary biliary cirrhosis 2,861 British and Irish ancestry cases, 8,514 British and Irish ancestry controls NA 17q21.31 CRHR1, MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs17564829-G rs17564829 0 17564829 intron_variant 0 0.24 2E-9 8.698970004336019 1.25 [1.16-1.35] Illumina [237619] (imputed) N 57 rs62064364 17 44013475 rs79857651 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Experiencing mood swings 373,733 European ancestry individuals NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs79857651-A rs79857651 0 79857651 intron_variant 0 0.215594 9E-20 19.045757490560675 9.1 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44018399 rs62061733 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling hurt 372,047 European ancestry individuals NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62061733-A rs62061733 0 62061733 intron_variant 0 0.22111 2E-28 27.69897000433602 11.07 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44018399 rs62061733 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Eosinophil counts approximately 440,000 European ancestry individuals NA 17q21.31 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62061733-? rs62061733 0 62061733 intron_variant 0 NR 3E-29 28.522878745280337 NR [~ 8900000] (imputed) N 57 rs62064364 17 44018488 rs62061734 2017-11-30 29059683 Michailidou K 2017-10-23 Nature www.ncbi.nlm.nih.gov/pubmed/29059683 Association analysis identifies 65 new breast cancer risk loci. Breast cancer 76,192 European ancestry cases, 63,082 European ancestry controls 46,785 European ancestry cases, 42,892 European ancestry controls, 14,068 East Asian ancestry cases, 13,104 East Asian ancestry controls 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62061734-C rs62061734 0 62061734 intron_variant 0 0.2103 8E-12 11.096910013008056 (EA) 0.0526 [0.038-0.068] unit decrease Illumina [~ 11800000] (imputed) N 57 rs62064364 17 44025888 rs242559 2018-09-17 29844566 Davies G 2018-05-29 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29844566 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. General cognitive ability up to 300,486 European ancestry individuals NA 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs242559-A rs242559 0 242559 intron_variant 0 NR 1E-13 13.0 7.429 z-score increase Affymetrix, Illumina [at least 2500000] (imputed) N 57 rs62064364 17 44037491 rs17650842 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Irritable mood 366,726 European ancestry individuals NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs17650842-A rs17650842 0 17650842 intron_variant 0 0.21663 2E-12 11.698970004336019 7.01 z score decrease NR [~ 10847151] (imputed) N 57 rs62064364 17 44038785 rs62063281 2019-02-08 30664745 Tachmazidou I 2019-01-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30664745 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. Osteoarthritis (hip) 15,704 European ancestry cases, 378,169 European ancestry controls NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62063281-G rs62063281 0 62063281 intron_variant 0 0.22 5E-12 11.301029995663981 1.1 [1.07-1.13] Affymetrix, Illumina [up to 17000000] (imputed) N 57 rs62064364 17 44038785 rs62063281 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Number of sexual partners 370,711 European ancestry individuals NA 17q21.31 STH MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62063281-A rs62063281 0 62063281 intron_variant 0 0.7784 4E-15 14.397940008672037 0.022359965 [0.017-0.028] unit increase Affymetrix [11515109] (imputed) N 57 rs62064364 17 44041107 rs56280951 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling miserable 376,097 European ancestry individuals NA 17q21.31 ACBD4 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs56280951-A rs56280951 0 56280951 intron_variant 0 0.21432 8E-13 12.096910013008056 7.17 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44056767 rs1981997 2013-11-01 23583980 Fingerlin TE 2013-04-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/23583980 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Interstitial lung disease 1,161 European ancestry cases, 4,683 European ancestry controls 876 European ancestry cases, 1,890 European ancestry controls 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs1981997-G rs1981997 0 1981997 non_coding_transcript_exon_variant 0 0.77 9E-14 13.045757490560675 1.41 [1.28-1.56] Illumina [439828] N 57 rs62064364 17 44065740 rs919462 2018-01-12 29146897 Pirastu N 2017-11-17 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29146897 GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. Male-pattern baldness 25,662 British ancestry cases, 17,928 British ancestry controls 13,367 European ancestry cases, 11,851 European ancestry controls, 3,436 cases, 2,435 controls 17q21.31 WNT3, MAPT, PLEKHM1 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs919462-C rs919462 0 919462 intron_variant 0 NR 1E-26 26.0 0.168393 [0.14-0.2] unit decrease Affymetrix [27512692] (imputed) N 57 rs62064364 17 44066172 rs112385572 2018-12-03 28196072 Hagenaars SP 2017-02-14 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/28196072 Genetic prediction of male pattern baldness. Male-pattern baldness 52,874 British ancestry males 17q21.31 CRHR1, KANSL1, MAPT, PLEKHM1, SPPL2C, STH MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs112385572-G rs112385572 0 112385572 intron_variant 0 NR 8E-29 28.096910013008056 0.0768246 NR unit decrease NR [NR] (imputed) N 57 rs62064364 17 44073889 rs1052553 2018-04-26 25751624 Onengut-Gumuscu S 2015-04-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/25751624 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. Type 1 diabetes 6,683 European ancestry cases, 12,173 European ancestry controls, 2,601 European ancestry affected sibling pair families, 69 European ancestry trios NA 17q21.31 Intergenic MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs1052553-A rs1052553 0 1052553 synonymous_variant 0 0.76 8E-8 7.096910013008056 1.1235955 Illumina [135870] N 57 rs62064364 17 44081064 rs8070723 2011-01-03 21044948 Spencer CC 2010-11-02 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/21044948 Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Parkinson's disease 1,705 European ancestry cases, 5,175 European ancestry controls 1,039 European ancestry cases, 1,984 European ancestry controls 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs8070723-? rs8070723 0 8070723 intron_variant 0 0.76 7E-12 11.154901959985743 1.3 [1.19-1.43] Illumina [532616] N 57 rs62064364 17 44081064 rs8070723 2011-07-14 21685912 Hoglinger GU 2011-06-19 Nat Genet www.ncbi.nlm.nih.gov/pubmed/21685912 Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Progressive supranuclear palsy 1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls 1,051 European ancestry cases, 3,560 European ancestry controls 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs8070723-? rs8070723 0 8070723 intron_variant 0 0.23 2E-118 117.69897000433602 5.11 [4.43-5.91] Illumina [531451] N 57 rs62064364 17 44083402 rs1991556 2019-01-18 30531941 Doherty A 2018-12-10 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30531941 GWAS identifies 14 loci for device-measured physical activity and sleep duration. Sleep duration 91,105 European ancestry individuals NA 17q21.31 STH MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs1991556-G rs1991556 0 1991556 intron_variant 0 0.774711 3E-9 8.522878745280337 0.03280479 [0.022-0.044] SD units increase NR [9926106] (imputed) N 57 rs62064364 17 44083402 rs1991556 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Lung function (FVC) approximately 372,000 European ancestry individuals NA 17q21.31 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs1991556-? rs1991556 0 1991556 intron_variant 0 NR 1E-53 53.0 NR [~ 8900000] (imputed) N 57 rs62064364 17 44095467 rs58879558 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Red blood cell count approximately 445,000 European ancestry individuals NA 17q21.31 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs58879558-? rs58879558 0 58879558 intron_variant 0 NR 3E-98 97.52287874528034 NR [~ 8900000] (imputed) N 57 rs62064364 17 44096553 rs62062288 2018-12-14 30336701 Sanchez-Roige S 2018-10-19 Am J Psychiatry www.ncbi.nlm.nih.gov/pubmed/30336701 Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts. Alcohol use disorder (consumption score) 121,604 British ancestry individuals NA 17q21.31 MAPT MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62062288-A rs62062288 0 62062288 intron_variant 0 NR 2E-9 8.698970004336019 0.008 [0.006-0.01] unit decrease NR [16213998] N 57 rs62064364 17 44096553 rs62062288 2018-12-14 30336701 Sanchez-Roige S 2018-10-19 Am J Psychiatry www.ncbi.nlm.nih.gov/pubmed/30336701 Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts. Alcohol use disorder (total score) 141,932 European ancestry individuals NA 17q21.31 CRHR1, DND1P1, ENSG00000262372, ENSG00000262500, ENSG00000262881, KANSL1, MAPT, MAPT-AS1, NSF, PLEKHM1, SPPL2C, STH, RP11-105N13.4, WNT3 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62062288-A rs62062288 0 62062288 intron_variant 0 NR 5E-10 9.301029995663981 6.21 [NR] z score decrease NR [16213998] N 57 rs62064364 17 44096553 rs62062288 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling guilty 373,380 European ancestry individuals NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62062288-A rs62062288 0 62062288 intron_variant 0 0.211505 7E-10 9.154901959985743 6.17 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44096553 rs62062288 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling worry 372,869 European ancestry individuals NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62062288-A rs62062288 0 62062288 intron_variant 0 0.211505 1E-9 9.0 6.079 unit increase NR [10847151] (imputed) N 57 rs62064364 17 44096553 rs62062288 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Neurociticism 380,506 European ancestry individuals NA 17q21.31 STH MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62062288-A rs62062288 0 62062288 intron_variant 0 0.211505 6E-32 31.221848749616356 11.77 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44096553 rs62062288 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Worry too long after an embarrassing experience 367,725 European ancestry individuals NA 17q21.31 NR MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62062288-A rs62062288 0 62062288 intron_variant 0 0.211505 4E-8 7.3979400086720375 5.5 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44096553 rs62062288 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Automobile speeding propensity 404,291 European ancestry individuals NA 17q21.31 KANSL1 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62062288-A rs62062288 0 62062288 intron_variant 0 0.2196 1E-12 12.0 0.019352188 [0.014-0.025] unit decrease Affymetrix [11514463] (imputed) N 57 rs62064364 17 44096553 rs62062288 2019-03-18 30643258 Karlsson Linner R 2019-01-14 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30643258 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Risk-taking tendency (4-domain principal component model) 315,894 European ancestry individuals NA 17q21.31 KANSL1 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs62062288-A rs62062288 0 62062288 intron_variant 0 0.2207 1E-29 29.0 0.035170935 [0.029-0.041] unit decrease Affymetrix [~ 11515000] (imputed) N 57 rs62064364 17 44098967 rs17652520 2018-02-01 29255261 Luciano M 2017-12-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29255261 Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism. Neuroticism 329,821 European ancestry individuals 122,867 European ancestry individuals 17q21.31 intergenic MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs17652520-A rs17652520 0 17652520 intron_variant 0 0.2216 1E-25 25.0 10.472 z score increase Illumina [18485882] (imputed) N 57 rs62064364 17 44098967 rs17652520 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Neuroticism approximately 372,000 European ancestry individuals NA 17q21.31 MAPT, MAPT, MAPT ENSG00000277956, ENSG00000276155, ENSG00000186868 rs17652520-? rs17652520 0 17652520 intron_variant 0 NR 2E-27 26.69897000433602 NR [~ 8900000] (imputed) N 57 rs62064364 17 44126673 rs112333322 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Experiencing mood swings 373,733 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs112333322-A rs112333322 0 112333322 intron_variant 0 0.214965 4E-19 18.397940008672037 8.94 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44126765 rs113434679 2019-05-02 30867560 Hill WD 2019-03-13 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30867560 Genetic contributions to two special factors of neuroticism are associated with affluence, higher intelligence, better health, and longer life. General factor of neuroticism 270,059 British ancestry individuals NA 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs113434679-C rs113434679 0 113434679 non_coding_transcript_exon_variant 0 NR 3E-21 20.522878745280337 0.016272 [0.013-0.02] unit increase Affymetrix [18485882] (imputed) N 57 rs62064364 17 44142332 rs193236081 2017-03-17 27089181 Okbay A 2016-04-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27089181 Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. Neuroticism 170,911 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs193236081-T rs193236081 1 77184207 intron_variant 0 0.774 6E-11 10.221848749616356 0.028413428 [0.02-0.037] unit decrease Affymetrix [up to 6544775] (imputed) N 57 rs62064364 17 44162597 rs8080583 2018-01-12 29186694 Lam M 2017-11-28 Cell Rep www.ncbi.nlm.nih.gov/pubmed/29186694 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. Cognitive ability 107,207 European ancestry individuals NA 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs8080583-? rs8080583 0 8080583 intron_variant 0 NR 1E-8 8.0 5.717 z score decrease Affymetrix, Illumina [7357080] (imputed) N 57 rs62064364 17 44187257 rs9303525 2012-06-01 22504418 Ikram MA 2012-04-15 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22504418 Common variants at 6q22 and 17q21 are associated with intracranial volume. Intracranial volume 8,175 European ancestry individuals 1,752 European ancestry individuals 17q21.31 MAPT, GRN, CRHR1, STH KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs9303525-G rs9303525 0 9303525 intron_variant 0 0.22 8E-15 14.096910013008056 14.9 [NR] ml decrease Affymetrix, Illumina [2229753] (imputed) N 57 rs62064364 17 44187492 rs17577094 2014-12-05 24842889 Vacic V 2014-05-19 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/24842889 Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. Parkinson's disease 1,130 Ashkenazi Jewish cases, 2,611 Ashkenazi Jewish controls 306 Ashkenazi Jewish cases, 2,583 Ashkenazi Jewish controls 17q21.31 MAPT KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs17577094-? rs17577094 0 17577094 intron_variant 0 0.74 8E-9 8.096910013008056 1.56 [1.39-1.79] Affymetrix, Illumina [1069161] (imputed) N 57 rs62064364 17 44189858 rs76640332 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Lymphocyte percentage of white cells 171,748 European ancestry individuals NA 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs76640332-A rs76640332 0 76640332 intron_variant 0 0.222 5E-13 12.301029995663981 0.03067547 [0.022-0.039] unit decrease Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 44192568 rs4630591 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling fed-up 374,971 European ancestry individuals NA 17q21.31 ACBD4 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs4630591-T rs4630591 0 4630591 intron_variant 0 0.198844 1E-17 17.0 8.54 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44192590 rs35524223 2017-06-16 28166213 Wain LV 2017-02-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28166213 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. Lung function (FEV1) 48,943 European ancestry individuals. 57,176 European ancestry individuals, 38,199 individuals. 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs35524223-A rs35524223 0 35524223 intron_variant 0 0.22 1E-13 13.0 0.061 [0.045-0.077] unit decrease Affymetrix [up to 27624732] (imputed) N 57 rs62064364 17 44192590 rs35524223 2017-06-16 28166213 Wain LV 2017-02-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28166213 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. Lung function (FVC) 48,943 European ancestry individuals. 57,176 European ancestry individuals, 38,199 individuals. 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs35524223-A rs35524223 0 35524223 intron_variant 0 0.2166 7E-13 12.154901959985743 0.059 [0.043-0.075] unit decrease Affymetrix [27624732] (imputed) N 57 rs62064364 17 44192618 rs4606752 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. High light scatter reticulocyte count 170,761 European ancestry individuals NA 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs4606752-G rs4606752 0 4606752 intron_variant 0 0.2267 2E-16 15.698970004336019 0.03470527 [0.026-0.043] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 44192618 rs4606752 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Reticulocyte count 170,641 European ancestry individuals NA 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs4606752-G rs4606752 0 4606752 intron_variant 0 0.2266 1E-17 17.0 0.03608263 [0.028-0.044] unit increase Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 44192923 rs17577369 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling miserable 376,097 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs17577369-A rs17577369 0 17577369 intron_variant 0 0.2157 4E-12 11.397940008672037 6.96 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44192957 rs17661015 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling hurt 372,047 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs17661015-T rs17661015 0 17661015 intron_variant 0 0.215131 3E-28 27.522878745280337 11.02 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44192957 rs17661015 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Irritable mood 366,726 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs17661015-T rs17661015 0 17661015 intron_variant 0 0.215131 4E-12 11.397940008672037 6.93 z score decrease NR [~ 10847151] (imputed) N 57 rs62064364 17 44205690 rs4471723 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling guilty 373,380 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs4471723-T rs4471723 0 4471723 intron_variant 0 0.219254 5E-9 8.301029995663981 5.84 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44207932 rs79301522 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Neurociticism 380,506 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs79301522-A rs79301522 0 79301522 intron_variant 0 0.217029 1E-30 30.0 11.51 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44221836 rs2696589 2018-02-01 29255261 Luciano M 2017-12-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29255261 Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism. Neuroticism 329,821 European ancestry individuals 122,867 European ancestry individuals 17q21.31 intergenic KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs2696589-T rs2696589 0 2696589 intron_variant 0 0.19528 3E-25 24.522878745280337 10.371 z score increase Illumina [18485882] (imputed) N 57 rs62064364 17 44224940 rs80103986 2018-02-02 29313844 Willems SM 2017-07-12 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29313844 Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Hand grip strength 142,035 European ancestry individuals 53,145 European ancestry individuals 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs80103986-A rs80103986 0 80103986 intron_variant 0 0.805 1E-9 9.0 0.171 [0.12-0.23] kg increase Affymetrix [at least 17000000] (imputed) N 57 rs62064364 17 44227393 rs2696579 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Mean corpuscular hemoglobin 172,332 European ancestry individuals NA 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs2696579-A rs2696579 0 2696579 intron_variant 0 0.3371 5E-10 9.301029995663981 0.02511521 [0.017-0.033] unit decrease Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 44227393 rs2696579 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Mean corpuscular volume 172,433 European ancestry individuals NA 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs2696579-A rs2696579 0 2696579 intron_variant 0 0.3375 2E-9 8.698970004336019 0.02406112 [0.016-0.032] unit decrease Affymetrix [~ 2500000] (imputed) N 57 rs62064364 17 44248769 rs1881193 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Experiencing mood swings 373,733 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs1881193-T rs1881193 0 1881193 missense_variant 0 0.21737 1E-18 18.0 8.84 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44252468 rs2532263 2017-11-30 29059683 Michailidou K 2017-10-23 Nature www.ncbi.nlm.nih.gov/pubmed/29059683 Association analysis identifies 65 new breast cancer risk loci. Breast cancer 76,192 European ancestry cases, 63,082 European ancestry controls 46,785 European ancestry cases, 42,892 European ancestry controls, 14,068 East Asian ancestry cases, 13,104 East Asian ancestry controls 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs2532263-G rs2532263 0 2532263 intron_variant 0 0.81 7E-13 12.154901959985743 (EA) 1.0526316 [1.03-1.08] (Oncoarray) Illumina [~ 11800000] (imputed) N 57 rs62064364 17 44252468 rs2532263 2019-05-02 30867560 Hill WD 2019-03-13 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30867560 Genetic contributions to two special factors of neuroticism are associated with affluence, higher intelligence, better health, and longer life. General factor of neuroticism 270,059 British ancestry individuals NA 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs2532263-G rs2532263 0 2532263 intron_variant 0 NR 4E-20 19.397940008672037 0.015798 [0.012-0.019] unit increase Affymetrix [18485882] (imputed) N 57 rs62064364 17 44284057 rs2696457 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling worry 372,869 European ancestry individuals NA 17q21.31 NR KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs2696457-T rs2696457 0 2696457 intron_variant 0 0.215657 6E-10 9.221848749616356 6.186 unit increase NR [10847151] (imputed) N 57 rs62064364 17 44289232 rs2732631 2019-01-28 30535121 Gao XR 2018-12-07 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/30535121 Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort. Macular thickness 59,814 European ancestry individuals 8,609 European ancestry individuals 17q21.31 KANSL1 KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs2732631-? rs2732631 0 2732631 intron_variant 0 NR 3E-35 34.52287874528034 0.959 [0.8-1.12] unit decrease Affymetrix [11100000] (imputed) N 57 rs62064364 17 44301840 rs142920272 2019-04-10 30804558 Grove J 2019-02-25 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30804558 Identification of common genetic risk variants for autism spectrum disorder. Autism spectrum disorder 18,381 European ancestry cases, 27,969 European ancestry controls 2,119 European ancestry cases, 142,379 European ancestry controls 17q21.31 Intergenic KANSL1, KANSL1, KANSL1 ENSG00000120071, ENSG00000275867, ENSG00000278458 rs142920272-C rs142920272 1 2532407 intron_variant 0 0.187 9E-7 6.045757490560675 1.0881393 [NR] Illumina [9112387] (imputed) N 57 rs62064364 17 44318184 rs2696668 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling hurt 372,047 European ancestry individuals NA 17q21.31 NR KANSL1 - MAPK8IP1P1 ENSG00000278458 ENSG00000281283 15429 2788 rs2696668-A rs2696668 0 2696668 intergenic_variant 1 0.215905 1E-26 26.0 10.68 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44324572 rs555203107 2018-12-17 28957414 Pilling LC 2017-09-28 PLoS One www.ncbi.nlm.nih.gov/pubmed/28957414 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. Red cell distribution width 116,666 British ancestry individuals NA 17q21.31 NR MAPK8IP1P1 - AC005829.2 ENSG00000281283 ENSG00000262539 2162 12345 rs555203107-G rs555203107 1 62073112 regulatory_region_variant 1 NR 8E-28 27.096910013008056 0.0516895 [0.042-0.061] unit increase Affymetrix [16832071] (imputed) N 57 rs62064364 17 44326864 rs2696625 2019-01-18 30531941 Doherty A 2018-12-10 Nat Commun www.ncbi.nlm.nih.gov/pubmed/30531941 GWAS identifies 14 loci for device-measured physical activity and sleep duration. Physical activity (overall physical activity time) 91,105 European ancestry individuals NA 17q21.31 KANSL1-AS1 MAPK8IP1P1 - AC005829.2 ENSG00000281283 ENSG00000262539 4454 10053 rs2696625-A rs2696625 0 2696625 intergenic_variant 1 0.77 3E-12 11.522878745280337 0.037 [0.027-0.047] SD units decrease NR [9926106] (imputed) N 57 rs62064364 17 44347218 rs2696557 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling nervous 373,121 European ancestry individuals NA 17q21.31 NR AC005829.1 - ARL17B ENSG00000261575 ENSG00000228696 1158 4932 rs2696557-A rs2696557 0 2696557 intergenic_variant 1 0.214201 3E-15 14.522878745280337 7.91 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44351387 rs2732708 2018-02-01 29255261 Luciano M 2017-12-18 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29255261 Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism. Neuroticism 329,821 European ancestry individuals 122,867 European ancestry individuals 17q21.31 intergenic AC005829.1 - ARL17B ENSG00000261575 ENSG00000228696 5327 763 rs2732708-T rs2732708 0 2732708 intergenic_variant 1 0.21404 2E-23 22.69897000433602 9.955 z score increase Illumina [18485882] (imputed) N 57 rs62064364 17 44351387 rs2732708 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling miserable 376,097 European ancestry individuals NA 17q21.31 NR AC005829.1 - ARL17B ENSG00000261575 ENSG00000228696 5327 763 rs2732708-T rs2732708 0 2732708 intergenic_variant 1 0.214039 3E-11 10.522878745280337 6.64 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44354549 rs2261201 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Irritable mood 366,726 European ancestry individuals NA 17q21.31 NR ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs2261201-C rs2261201 0 2261201 intron_variant 0 0.214631 5E-12 11.301029995663981 6.91 z score decrease NR [~ 10847151] (imputed) N 57 rs62064364 17 44354904 rs2732699 2017-11-30 29059683 Michailidou K 2017-10-23 Nature www.ncbi.nlm.nih.gov/pubmed/29059683 Association analysis identifies 65 new breast cancer risk loci. Breast cancer 76,192 European ancestry cases, 63,082 European ancestry controls 46,785 European ancestry cases, 42,892 European ancestry controls, 14,068 East Asian ancestry cases, 13,104 East Asian ancestry controls 17q21.31 NR ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs2732699-C rs2732699 0 2732699 intron_variant 0 0.8401 1E-10 10.0 (EA) 0.0595 [0.041-0.078] unit increase Illumina [~ 11800000] (imputed) N 57 rs62064364 17 44355602 rs2696532 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling guilty 373,380 European ancestry individuals NA 17q21.31 NR ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs2696532-A rs2696532 0 2696532 intron_variant 0 0.212157 4E-8 7.3979400086720375 5.49 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44357351 rs17665188 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Experiencing mood swings 373,733 European ancestry individuals NA 17q21.31 NR ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs17665188-T rs17665188 0 17665188 intron_variant 0 0.213949 1E-18 18.0 8.79 z score decrease NR [10847151] (imputed) N 57 rs62064364 17 44363929 rs2696500 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Neurociticism 380,506 European ancestry individuals NA 17q21.31 NR ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs2696500-T rs2696500 0 2696500 intron_variant 0 0.214048 4E-29 28.397940008672037 11.21 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44364209 rs2732614 2016-09-27 26632684 Dong J 2015-11-01 Medicine (Baltimore) www.ncbi.nlm.nih.gov/pubmed/26632684 Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. Sense of smell 6,252 European ancestry individuals NA 17q21.31 KIAA1267, LRRC37 ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs2732614-T rs2732614 0 2732614 intron_variant 0 0.2 7E-6 5.154901959985743 (Ajusted for ApoE) 0.03 [0.01-0.05] ln(smell score+1) increase Affymetrix, Illumina [2543887] (imputed) N 57 rs62064364 17 44364209 rs2732614 2016-09-27 26632684 Dong J 2015-11-01 Medicine (Baltimore) www.ncbi.nlm.nih.gov/pubmed/26632684 Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. Sense of smell 6,252 European ancestry individuals NA 17q21.31 KIAA1267, LRRC37 ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs2732614-T rs2732614 0 2732614 intron_variant 0 0.2 8E-6 5.096910013008056 0.03 [0.01-0.05] ln(smell score+1) increase Affymetrix, Illumina [2543887] (imputed) N 57 rs62064364 17 44364649 rs2696497 2019-01-22 29500382 Nagel M 2018-03-02 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29500382 Item-level analyses reveal genetic heterogeneity in neuroticism. Feeling fed-up 374,971 European ancestry individuals NA 17q21.31 NR ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs2696497-T rs2696497 0 2696497 intron_variant 0 0.21384 2E-15 14.698970004336019 7.92 z score increase NR [10847151] (imputed) N 57 rs62064364 17 44368212 rs2957297 2018-09-17 29844566 Davies G 2018-05-29 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29844566 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. General cognitive ability up to 300,486 European ancestry individuals NA 17q21.31 NR ARL17B, ARL17B, ARL17B ENSG00000275748, ENSG00000276276, ENSG00000228696 rs2957297-? rs2957297 0 2957297 intron_variant 0 NR 2E-7 6.698970004336019 5.231 z-score decrease Affymetrix, Illumina [at least 2500000] (imputed) N 58 rs143442432 17 63944599 rs9893012 2018-11-30 30279531 Baselmans BML 2018-10-02 Sci Rep www.ncbi.nlm.nih.gov/pubmed/30279531 A genetic perspective on the relationship between eudaimonic -and hedonic well-being. Eudaimonic well-being 108,154 British ancestry individuals NA 17q24.1 NR CEP112 ENSG00000154240 rs9893012-G rs9893012 0 9893012 intron_variant 0 0.08875 4E-6 5.3979400086720375 4.62188 [NR] z score increase Affymetrix [~ 8600000] (imputed) N 58 rs143442432 17 64198640 rs11651658 2018-11-30 30279531 Baselmans BML 2018-10-02 Sci Rep www.ncbi.nlm.nih.gov/pubmed/30279531 A genetic perspective on the relationship between eudaimonic -and hedonic well-being. Eudaimonic well-being 108,154 British ancestry individuals NA 17q24.2 NR PSMD7P1 - APOH ENSG00000266707 ENSG00000091583 4284 9511 rs11651658-C rs11651658 0 11651658 regulatory_region_variant 1 0.069336 9E-7 6.045757490560675 4.91763 [NR] z score increase Affymetrix [~ 8600000] (imputed) N 58 rs143442432 17 64215623 rs8178848 2017-01-27 27098658 Muller-Calleja N 2016-04-21 Thromb Haemost www.ncbi.nlm.nih.gov/pubmed/27098658 Antiphospholipid antibodies in a large population-based cohort: genome-wide associations and effects on monocyte gene expression. Presence of antiphospholipid antibodies 4,163 German ancestry individuals NA 17q24.2 CCDC46, APOH APOH ENSG00000091583 rs8178848-? rs8178848 0 8178848 intron_variant 0 NR 1E-11 11.0 (Anti-β2GPI IgG, 99th percentile) 1.7885 [1.27-2.31] Affymetrix [at least 662405] N 58 rs143442432 17 64216815 rs8178847 2017-07-18 28240269 Suhre K 2017-02-27 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28240269 Connecting genetic risk to disease end points through the human blood plasma proteome. Blood protein levels 997 European ancestry individuals 338 Arab, South Asian and Filipino ancestry individuals 17q24.2 APOH, CEP112, PSMD7P1 APOH ENSG00000091583 rs8178847-T rs8178847 0 8178847 missense_variant 0 0.06576305 4E-17 16.397940008672037 (EA, Dickkopf-related protein 4) 0.6899 [0.53-0.85] unit increase Affymetrix [509946] N 58 rs143442432 17 64216815 rs8178847 2017-07-18 28240269 Suhre K 2017-02-27 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28240269 Connecting genetic risk to disease end points through the human blood plasma proteome. Blood protein levels 997 European ancestry individuals 338 Arab, South Asian and Filipino ancestry individuals 17q24.2 APOH, CEP112, PSMD7P1 APOH ENSG00000091583 rs8178847-T rs8178847 0 8178847 missense_variant 0 0.06576305 8E-19 18.096910013008056 (EA, NAD-dependent protein deacetylase sirtuin-2) 0.7904 [0.62-0.96] unit increase Affymetrix [509946] N 58 rs143442432 17 64225529 rs8178822 2017-01-27 27098658 Muller-Calleja N 2016-04-21 Thromb Haemost www.ncbi.nlm.nih.gov/pubmed/27098658 Antiphospholipid antibodies in a large population-based cohort: genome-wide associations and effects on monocyte gene expression. Presence of antiphospholipid antibodies 4,163 German ancestry individuals NA 17q24.2 APOH, CCDC46 APOH ENSG00000091583 rs8178822-? rs8178822 0 8178822 5_prime_UTR_variant 0 NR 1E-11 11.0 (Anti-β2GPI IgG, 99th percentile) 1.7714 [1.26-2.28] Affymetrix [at least 662405] N 59 rs34000805 17 65828371 rs2080090 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Body fat percentage 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 17q24.2 NR BPTF ENSG00000171634 rs2080090-? rs2080090 0 2080090 intron_variant 0 NR 5E-9 8.301029995663981 0.15811 [0.1-0.21] unit increase Affymetrix [7794483] (imputed) N 59 rs34000805 17 65828371 rs2080090 2019-02-08 30593698 Hubel C 2018-12-28 Am J Med Genet B Neuropsychiatr Genet www.ncbi.nlm.nih.gov/pubmed/30593698 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. Body fat percentage 70,700 European ancestry female individuals, 85,261 European ancestry male individuals NA 17q24.2 NR BPTF ENSG00000171634 rs2080090-? rs2080090 0 2080090 intron_variant 0 NR 6E-8 7.221848749616356 (male) 0.18015 [0.11-0.25] unit increase Affymetrix [7794483] (imputed) N 59 rs34000805 17 65832016 rs7218014 2019-02-06 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Body mass index approximately 458,000 European ancestry individuals NA 17q24.2 BPTF ENSG00000171634 rs7218014-? rs7218014 0 7218014 intron_variant 0 NR 7E-15 14.154901959985743 NR [~ 8900000] (imputed) N 59 rs34000805 17 65836001 rs80135947 2018-07-09 29691431 Tikkanen E 2018-04-24 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29691431 Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank. Hand grip strength 223,215 British ancestry individuals 111,610 British ancestry individuals 17q24.2 BPTF BPTF ENSG00000171634 rs80135947-C rs80135947 0 80135947 intron_variant 0 0.2 5E-12 11.301029995663981 0.003 [0.0022-0.0038] unit decrease Affymetrix [15275733] (imputed) N 59 rs34000805 17 65839210 rs8073510 2018-07-09 29691431 Tikkanen E 2018-04-24 Sci Rep www.ncbi.nlm.nih.gov/pubmed/29691431 Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank. Hand grip strength 334,825 British ancestry individuals NA 17q24.2 BPTF BPTF ENSG00000171634 rs8073510-A rs8073510 0 8073510 intron_variant 0 0.8045 1E-16 16.0 0.003 [0.0022-0.0038] unit increase Affymetrix [15275733] (imputed) N 59 rs34000805 17 65870073 rs12602912 2017-10-27 28892062 Akiyama M 2017-09-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28892062 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. Body mass index up to 72,390 Japanese ancestry women, up to 85,894 Japanese ancestry men up to 10,048 Japanese ancestry women, up to 5,098 Japanese ancestry men, up to 181,999 European ancestry women, up to 140,155 European ancestry controls 17q24.2 BPTF BPTF ENSG00000171634 rs12602912-T rs12602912 0 12602912 intron_variant 0 0.22 6E-12 11.221848749616356 0.019 [0.013-0.025] kg/m2 increase Illumina [6108953] (imputed) N 59 rs34000805 17 65870073 rs12602912 2018-09-28 30108127 Hoffmann TJ 2018-08-14 Genetics www.ncbi.nlm.nih.gov/pubmed/30108127 A Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. Body mass index 315,347 European ancestry individuals, 8,322 Hispanic/Latino individuals, 7,290 East Asian ancestry individuals, 3,069 African American individuals, 459 South Asian ancestry individuals 431,743 European ancestry individuals, 9,275 South Asian ancestry individuals, 8,261 African British individuals, 1,822 East Asian ancestry individuals, 7,620 individuals 17q24.2 NR BPTF ENSG00000171634 rs12602912-C rs12602912 0 12602912 intron_variant 0 NR 5E-8 7.301029995663981 0.017 [NR] unit decrease Affymetrix [at least 28613428] (imputed) N 59 rs34000805 17 65880538 rs60432162 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Eosinophil counts 172,275 European ancestry individuals NA 17q24.2 BPTF BPTF ENSG00000171634 rs60432162-C rs60432162 0 60432162 intron_variant 0 0.1978 6E-19 18.221848749616356 0.04065155 [0.032-0.05] unit increase Affymetrix [~ 2500000] (imputed) N 59 rs34000805 17 65880538 rs60432162 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Sum eosinophil basophil counts 171,771 European ancestry individuals NA 17q24.2 BPTF BPTF ENSG00000171634 rs60432162-C rs60432162 0 60432162 intron_variant 0 0.1978 2E-17 16.69897000433602 0.0388262 [0.03-0.048] unit increase Affymetrix [~ 2500000] (imputed) N 59 rs34000805 17 65892507 rs61676547 2018-11-26 30275531 Klarin D 2018-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30275531 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. HDL cholesterol 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals Up to 319,677 individuals 17q24.2 BPTF BPTF ENSG00000171634 rs61676547-C rs61676547 0 61676547 intron_variant 0 0.3144 3E-11 10.522878745280337 0.0208 [0.015-0.027] mg dl−1 decrease Affymetrix [up to 31400000] (imputed) N 59 rs34000805 17 65898809 rs7216064 2012-09-20 22797724 Shiraishi K 2012-07-15 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22797724 A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. Lung adenocarcinoma 1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls 4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls 17q24.2 BPTF BPTF ENSG00000171634 rs7216064-A rs7216064 0 7216064 intron_variant 0 0.707 7E-11 10.154901959985743 1.2 [1.13-1.26] Illumina [538166] N 59 rs34000805 17 65898809 rs7216064 2013-02-01 23143601 Lan Q 2012-11-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/23143601 Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia. Lung cancer 5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls 1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls 17q24.2 BPTF BPTF ENSG00000171634 rs7216064-A rs7216064 0 7216064 intron_variant 0 0.63 7E-6 5.154901959985743 1.16 [1.09-1.25] Illumina [596032] N 59 rs34000805 17 65898809 rs7216064 2017-02-10 27501781 Shiraishi K 2016-08-09 Nat Commun www.ncbi.nlm.nih.gov/pubmed/27501781 Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma. EGFR mutation-positive lung adenocarcinoma 663 Japanese ancestry cases, 4,367 Japanese ancestry controls 2,510 Japanese ancestry cases, 10,791 Japanese ancestry controls 17q24.2 BPTF BPTF ENSG00000171634 rs7216064-A rs7216064 0 7216064 intron_variant 0 0.706 2E-12 11.698970004336019 1.27 [1.19-1.35] Illumina [NR] (imputed) N 59 rs34000805 17 65921834 rs4790981 2017-10-27 28892062 Akiyama M 2017-09-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28892062 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. Body mass index up to 72,390 Japanese ancestry women, up to 85,894 Japanese ancestry men up to 10,048 Japanese ancestry women, up to 5,098 Japanese ancestry men, up to 181,999 European ancestry women, up to 140,155 European ancestry controls 17q24.2 BPTF BPTF ENSG00000171634 rs4790981-G rs4790981 0 4790981 intron_variant 0 0.713 5E-10 9.301029995663981 (Japanese) 0.024 [0.016-0.032] kg/m2 increase Illumina [6108953] (imputed) N 59 rs34000805 17 65944515 rs11870068 2017-01-16 27151647 Chen G 2016-05-05 Addict Biol www.ncbi.nlm.nih.gov/pubmed/27151647 An association study revealed substantial effects of dominance, epistasis and substance dependence co-morbidity on alcohol dependence symptom count. Alcohol dependence symptom count 2,605 European ancestry individuals, 1,233 African American individuals NA 17q24.2 BPTF BPTF ENSG00000171634 rs11870068-? rs11870068 0 11870068 intron_variant 0 5E-7 6.301029995663981 (additive) 0.227 [0.14-0.32] unit decrease Illumina [974863] N 59 rs34000805 17 65947640 rs12449442 2019-01-28 30535121 Gao XR 2018-12-07 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/30535121 Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort. Macular thickness 59,814 European ancestry individuals 8,609 European ancestry individuals 17q24.2 BPTF BPTF, AC134407.1 ENSG00000171634, ENSG00000266717 rs12449442-? rs12449442 0 12449442 non_coding_transcript_exon_variant 0 NR 7E-12 11.154901959985743 0.577 [0.41-0.75] unit decrease Affymetrix [11100000] (imputed) N 59 rs34000805 17 65975385 rs4791212 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Eosinophil counts approximately 440,000 European ancestry individuals NA 17q24.2 BPTF ENSG00000171634 rs4791212-? rs4791212 0 4791212 intron_variant 0 NR 8E-38 37.096910013008056 NR [~ 8900000] (imputed) N 59 rs34000805 17 65989961 rs7502307 2018-11-26 30275531 Klarin D 2018-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30275531 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. Triglycerides 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals Up to 319,677 individuals 17q24.2 intergenic C17orf58 ENSG00000186665 rs7502307-C rs7502307 0 7502307 stop_gained 0 0.7958 2E-12 11.698970004336019 0.0244 [0.018-0.031] mg dl−1 decrease Affymetrix [up to 31400000] (imputed) N 60 rs9917056 19 36185103 rs55939240 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Menarche (age at onset) approximately 242,000 European ancestry individuals NA 19q13.12 TYMSP2 - ZBTB32 ENSG00000267190 ENSG00000011590 10000 10326 rs55939240-? rs55939240 0 55939240 TF_binding_site_variant 1 NR 5E-13 12.301029995663981 NR [~ 8900000] (imputed) N 60 rs9917056 19 36240960 rs173003 2018-10-19 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (years of education) up to 1,131,881 European ancestry individuals NA 19q13.12 LIN37, AD000671.3, AD000671.1 ENSG00000267796, ENSG00000267439, ENSG00000188223 rs173003-A rs173003 0 173003 intron_variant 0 0.4934 6E-9 8.221848749616356 0.0082 [0.0055-0.0109] unit decrease Affymetrix, Illumina [10000000] (imputed) N 60 rs9917056 19 36240960 rs173003 2018-11-12 30038396 Lee JJ 2018-07-23 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30038396 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Educational attainment (MTAG) 1,311,438 European ancestry individuals NA 19q13.12 Intergenic LIN37, AD000671.3, AD000671.1 ENSG00000267796, ENSG00000267439, ENSG00000188223 rs173003-A rs173003 0 173003 intron_variant 0 0.4934 7E-11 10.154901959985743 (MTAG) 0.0085 [0.006-0.011] unit decrease Affymetrix, Illumina [7100000] (imputed) N 60 rs9917056 19 36252494 rs807478 2019-02-06 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Educational attainment (years of education) approximately 455,000 European ancestry individuals NA 19q13.12 PROSER3 ENSG00000167595 rs807478-? rs807478 0 807478 intron_variant 0 NR 1E-8 8.0 NR [~ 8900000] (imputed) N 61 rs429358 19 45392254 rs6857 2013-04-19 23326517 Holliday EG 2013-01-11 PLoS One www.ncbi.nlm.nih.gov/pubmed/23326517 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. Age-related macular degeneration 3,772 European ancestry cases, 16,033 European ancestry controls 264 Asian ancestry cases, 3,926 Asian ancestry controls 19q13.32 APOE, PVRL2, TOMM40 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-? rs6857 0 6857 3_prime_UTR_variant 0 0.85 1E-6 6.0 1.23 [1.14-1.35] Affymetrix, Illumina [~ 2500000] (imputed) N 61 rs429358 19 45392254 rs6857 2013-04-19 23326517 Holliday EG 2013-01-11 PLoS One www.ncbi.nlm.nih.gov/pubmed/23326517 Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. Age-related macular degeneration 3,772 European ancestry cases, 16,033 European ancestry controls 264 Asian ancestry cases, 3,926 Asian ancestry controls 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-? rs6857 0 6857 3_prime_UTR_variant 0 0.85 1E-6 6.0 (EA) 1.23 [1.14-1.35] Affymetrix, Illumina [~ 2500000] (imputed) N 61 rs429358 19 45392254 rs6857 2013-06-06 23419831 Ramanan VK 2013-02-19 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/23419831 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Alzheimer's disease biomarkers 555 European ancestry individuals NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.28 1E-10 10.0 (Cortical Ab) Illumina [6108668] (imputed) N 61 rs429358 19 45392254 rs6857 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Cerebral amyloid angiopathy 1,673 cases, 1,134 controls NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.3429 3E-21 20.522878745280337 0.6708 [0.53-0.81] unit increase Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Dementia and core Alzheimer's disease neuropathologic changes up to 3,887 cases, up to 1,027 controls NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.2864 3E-38 37.52287874528034 (Complete) 1.501 [1.27-1.73] unit increase Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Dementia and core Alzheimer's disease neuropathologic changes up to 3,887 cases, up to 1,027 controls NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.2883 2E-62 61.69897000433602 (Primary) 1.6136 [1.42-1.8] unit increase Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Neuritic plaque up to 4,232 individuals NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.2661 2E-27 26.69897000433602 (Case/control) 1.2932 [1.06-1.53] unit increase Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Neuritic plaque up to 4,232 individuals NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.3155 3E-47 46.52287874528034 (Ordinal) 0.9467 [0.82-1.08] unit increase Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Neurofibrillary tangles up to 4,707 individuals NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.3219 5E-44 43.30102999566398 (Ordinal II) 0.7871 [0.68-0.9] unit increase Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Neurofibrillary tangles up to 4,707 individuals NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.3285 5E-47 46.30102999566398 (Ordinal I) 0.6632 [0.57-0.75] unit increase Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2015-09-22 25648963 Debette S 2014-11-25 Biol Psychiatry www.ncbi.nlm.nih.gov/pubmed/25648963 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Verbal declarative memory Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals Up to 10,617 European ancestry individuals, up to 3,811 African American individuals 19q13.32 PVRL2, TOMM40 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.16 4E-13 12.397940008672037 (PAR-dr) Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2015-09-22 25648963 Debette S 2014-11-25 Biol Psychiatry www.ncbi.nlm.nih.gov/pubmed/25648963 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Verbal declarative memory Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals Up to 10,617 European ancestry individuals, up to 3,811 African American individuals 19q13.32 PVRL2, TOMM40 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.16 4E-13 12.397940008672037 (PAR-dr, EA) Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45392254 rs6857 2016-04-28 26154020 Ferrari R 2015-06-12 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/26154020 A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. Frontotemporal dementia 530 European ancestry cases, 926 European ancestry controls NA 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.13 8E-6 5.096910013008056 1.7 [1.46-1.94] Illumina [2292247] (imputed) N 61 rs429358 19 45392254 rs6857 2016-12-08 26833246 Lu Y 2016-02-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26833246 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Body fat percentage Up to 31,457 European ancestry men, up to 35,030 European ancestry women, up to 8,259 Indian Asian ancestry men, up to 1,030 Indian Asian ancestry women, 973 Korean ancestry men, 1,360 Korean ancestry women, 154 African American men, 262 African American women Up to 12,480 European ancestry men, up to 10,055 European ancestry women, 315 Jamaican ancestry men, 774 Jamaican ancestry women 19q13.32 TOMM40, APOE AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-C rs6857 0 6857 3_prime_UTR_variant 0 0.83 2E-7 6.698970004336019 (European women) 0.062 [0.038-0.086] body fat % increase Affymetrix, Illumina, Perlegen [at least 1958375] (imputed) N 61 rs429358 19 45392254 rs6857 2016-12-08 26833246 Lu Y 2016-02-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26833246 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Body fat percentage Up to 31,457 European ancestry men, up to 35,030 European ancestry women, up to 8,259 Indian Asian ancestry men, up to 1,030 Indian Asian ancestry women, 973 Korean ancestry men, 1,360 Korean ancestry women, 154 African American men, 262 African American women Up to 12,480 European ancestry men, up to 10,055 European ancestry women, 315 Jamaican ancestry men, 774 Jamaican ancestry women 19q13.32 TOMM40, APOE AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-C rs6857 0 6857 3_prime_UTR_variant 0 0.83 7E-10 9.154901959985743 (European) 0.053 [0.035-0.071] body fat % increase Affymetrix, Illumina, Perlegen [at least 1958375] (imputed) N 61 rs429358 19 45392254 rs6857 2016-12-08 26833246 Lu Y 2016-02-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26833246 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Body fat percentage Up to 31,457 European ancestry men, up to 35,030 European ancestry women, up to 8,259 Indian Asian ancestry men, up to 1,030 Indian Asian ancestry women, 973 Korean ancestry men, 1,360 Korean ancestry women, 154 African American men, 262 African American women Up to 12,480 European ancestry men, up to 10,055 European ancestry women, 315 Jamaican ancestry men, 774 Jamaican ancestry women 19q13.32 TOMM40, APOE, APOC1, SH2B1, APOB48R AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-C rs6857 0 6857 3_prime_UTR_variant 0 0.83 7E-7 6.154901959985743 (women) 0.058 [0.035-0.081] body fat % increase Affymetrix, Illumina, Perlegen [at least 1958375] (imputed) N 61 rs429358 19 45392254 rs6857 2016-12-08 26833246 Lu Y 2016-02-01 Nat Commun www.ncbi.nlm.nih.gov/pubmed/26833246 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Body fat percentage Up to 31,457 European ancestry men, up to 35,030 European ancestry women, up to 8,259 Indian Asian ancestry men, up to 1,030 Indian Asian ancestry women, 973 Korean ancestry men, 1,360 Korean ancestry women, 154 African American men, 262 African American women Up to 12,480 European ancestry men, up to 10,055 European ancestry women, 315 Jamaican ancestry men, 774 Jamaican ancestry women 19q13.32 TOMM40, APOE, APOC1, SH2B1, APOB48R AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-C rs6857 0 6857 3_prime_UTR_variant 0 0.83 7E-9 8.154901959985743 0.048 [0.032-0.064] body fat % increase Affymetrix, Illumina, Perlegen [at least 1958375] (imputed) N 61 rs429358 19 45392254 rs6857 2017-02-17 27189021 Cook JP 2016-05-18 Eur J Hum Genet www.ncbi.nlm.nih.gov/pubmed/27189021 Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility. Type 2 diabetes 746 African American cases, 2,825 African American controls, 743 East Asian ancestry cases, 3,992 East Asian ancestry controls, 7,111 European ancestry cases, 49,688 European ancestry controls, 1,147 Latino cases, 5,352 Latino controls 12,171 European ancestry cases, 56,862 European ancestry controls 19q13.32 TOMM40, APOE AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-C rs6857 0 6857 3_prime_UTR_variant 0 0.844 7E-9 8.154901959985743 1.12 [1.08-1.16] NR [at least 8497425] (imputed) N 61 rs429358 19 45392254 rs6857 2017-06-27 28183528 Jun GR 2017-02-06 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/28183528 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimer's disease 13,100 European ancestry cases, 13,220 European ancestry controls, 1,472 African American cases, 3,511 African American controls, 951 Japanese ancestry cases, 894 Japanese ancestry controls, 51 Israeli-Arab ancestry cases, 64 Israeli-Arab ancestry controls 5,813 European ancestry cases, 20,474 European ancestry controls 19q13.32 NR AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 NR 6E-7 6.221848749616356 (AA) 1.27 [1.15-1.40] NR [NR] N 61 rs429358 19 45392254 rs6857 2017-06-27 28183528 Jun GR 2017-02-06 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/28183528 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimer's disease 13,100 European ancestry cases, 13,220 European ancestry controls, 1,472 African American cases, 3,511 African American controls, 951 Japanese ancestry cases, 894 Japanese ancestry controls, 51 Israeli-Arab ancestry cases, 64 Israeli-Arab ancestry controls 5,813 European ancestry cases, 20,474 European ancestry controls 19q13.32 NR AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 NR 7E-18 17.154901959985743 (Japanese) 3.22 [2.45-4.24] NR [NR] N 61 rs429358 19 45392254 rs6857 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 PVRL2 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-T rs6857 0 6857 3_prime_UTR_variant 0 0.2 2E-20 19.69897000433602 0.15 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45392254 rs6857 2019-02-06 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Body mass index approximately 458,000 European ancestry individuals NA 19q13.32 AC011481.2, NECTIN2 ENSG00000267114, ENSG00000130202 rs6857-? rs6857 0 6857 3_prime_UTR_variant 0 NR 3E-23 22.522878745280337 NR [~ 8900000] (imputed) N 61 rs429358 19 45396665 rs59007384 2013-06-06 23419831 Ramanan VK 2013-02-19 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/23419831 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Alzheimer's disease biomarkers 555 European ancestry individuals NA 19q13.32 TOMM40 TOMM40 rs59007384-T rs59007384 0 59007384 intron_variant 0 0.32 7E-9 8.154901959985743 (Cortical Ab) Illumina [6108668] (imputed) N 61 rs429358 19 45396665 rs59007384 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 TOMM40 TOMM40 rs59007384-T rs59007384 0 59007384 intron_variant 0 0.25 3E-13 12.522878745280337 0.11 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45410002 rs769449 2008-06-22 18439548 Ridker PM 2008-04-24 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/18439548 Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. C-reactive protein 6,345 European ancestry female individuals NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 9E-21 20.045757490560675 0.26 [NR] mg/dl decrease Illumina [336108] N 61 rs429358 19 45410002 rs769449 2013-09-27 23562540 Cruchaga C 2013-04-04 Neuron www.ncbi.nlm.nih.gov/pubmed/23562540 GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Alzheimer's disease biomarkers 591 European ancestry cases, 687 European ancestry controls 19q13.32 APOE, TOMM40 APOE ENSG00000130203 rs769449-A rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 2E-16 15.698970004336019 (tau) 0.082 [NR] unit increase Illumina [5815690] (imputed) N 61 rs429358 19 45410002 rs769449 2013-09-27 23562540 Cruchaga C 2013-04-04 Neuron www.ncbi.nlm.nih.gov/pubmed/23562540 GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Alzheimer's disease biomarkers 591 European ancestry cases, 687 European ancestry controls 19q13.32 APOE, TOMM40 APOE ENSG00000130203 rs769449-A rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 2E-18 17.69897000433602 (ptau) 0.091 [NR] unit increase Illumina [5815690] (imputed) N 61 rs429358 19 45410002 rs769449 2014-08-02 24468470 Zhang C 2013-12-26 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/24468470 Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. Cognitive decline (age-related) 5,765 European ancestry individuals, 890 African American individuals NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 0.116 5E-19 18.30102999566398 (EA) 0.0315 [0.02457-0.03835] unit decrease Illumina [1530316] N 61 rs429358 19 45410002 rs769449 2016-09-12 26421299 Li J 2015-09-03 Biomed Res Int www.ncbi.nlm.nih.gov/pubmed/26421299 Genetic Interactions Explain Variance in Cingulate Amyloid Burden: An AV-45 PET Genome-Wide Association and Interaction Study in the ADNI Cohort. Cingulate cortical amyloid beta load 215 European ancestry early mild cognitive impairment cases, 152 European ancestry late mild cognitive impairment cases, 45 European ancestry Alzheimer disease cases, 190 European ancestry controls NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 5E-17 16.30102999566398 Illumina [582718] N 61 rs429358 19 45410002 rs769449 2016-12-01 27015805 Pilling LC 2016-03-23 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/27015805 Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants. Parental longevity (combined parental age at death) 45,627 middle-aged British individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 2E-7 6.698970004336019 0.058581 [0.036-0.081] unit increase Affymetrix [9658292] (imputed) N 61 rs429358 19 45410002 rs769449 2017-05-11 28031287 Sasayama D 2016-11-26 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28031287 Genome-wide quantitative trait loci mapping of the human cerebrospinal fluid proteome. Cerebrospinal fluid biomarker levels 133 Japanese ancestry individuals. NA 19q13.32 NR APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 2E-9 8.698970004336019 Apolipoprotein E (isoform E2) Illumina [514227] N 61 rs429358 19 45410002 rs769449 2017-05-23 28247064 Deming Y 2017-02-28 Acta Neuropathol www.ncbi.nlm.nih.gov/pubmed/28247064 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. Cerebrospinal P-tau181p levels 3,146 individuals NA 19q13.32 APOE, TOMM40, PVRL2, APOC1 APOE ENSG00000130203 rs769449-A rs769449 0 769449 non_coding_transcript_exon_variant 0 0.191 5E-33 32.30102999566398 0.079 [0.067-0.091] unit increase Illumina [7358575] (imputed) N 61 rs429358 19 45410002 rs769449 2017-05-23 28247064 Deming Y 2017-02-28 Acta Neuropathol www.ncbi.nlm.nih.gov/pubmed/28247064 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. Cerebrospinal T-tau levels 3,146 individuals NA 19q13.32 APOE, APOC1, TOMM40, PVRL2 APOE ENSG00000130203 rs769449-A rs769449 0 769449 non_coding_transcript_exon_variant 0 0.191 4E-29 28.397940008672037 0.078 [0.064-0.092] unit increase Illumina [7358575] (imputed) N 61 rs429358 19 45410002 rs769449 2017-05-23 28247064 Deming Y 2017-02-28 Acta Neuropathol www.ncbi.nlm.nih.gov/pubmed/28247064 Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. Cerebrospinal fluid AB1-42 levels 3,146 individuals NA 19q13.32 APOE, BCAM, PVRL2, TOMM40 APOE ENSG00000130203 rs769449-A rs769449 0 769449 non_coding_transcript_exon_variant 0 0.191 5E-94 93.30102999566398 0.101 [0.091-0.111] unit decrease Illumina [7358575] (imputed) N 61 rs429358 19 45410002 rs769449 2017-08-10 28641921 Li J 2017-05-15 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/28641921 Genome-wide association and interaction studies of CSF T-tau/Aβ42 ratio in ADNI cohort. Cerebrospinal fluid AB1-42 levels 113 European ancestry Alzheimer's disease cases, 207 European ancestry individuals with late mild cognitive impairment, 239 European ancestry individuals with early mild cognitive impairment, 85 European ancestry individuals with significant memory concern, 199 European ancestry controls. NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 2E-30 29.69897000433602 Illumina [563980] N 61 rs429358 19 45410002 rs769449 2017-08-10 28641921 Li J 2017-05-15 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/28641921 Genome-wide association and interaction studies of CSF T-tau/Aβ42 ratio in ADNI cohort. Cerebrospinal fluid t-tau levels 113 European ancestry Alzheimer's disease cases, 207 European ancestry individuals with late mild cognitive impairment, 239 European ancestry individuals with early mild cognitive impairment, 85 European ancestry individuals with significant memory concern, 199 European ancestry controls. NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 8E-11 10.096910013008056 Illumina [563980] N 61 rs429358 19 45410002 rs769449 2017-08-10 28641921 Li J 2017-05-15 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/28641921 Genome-wide association and interaction studies of CSF T-tau/Aβ42 ratio in ADNI cohort. Cerebrospinal fluid t-tau:AB1-42 ratio 113 European ancestry Alzheimer's disease cases, 207 European ancestry individuals with late mild cognitive impairment, 239 European ancestry individuals with early mild cognitive impairment, 85 European ancestry individuals with significant memory concern, 199 European ancestry controls. NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 6E-22 21.221848749616356 Illumina [563980] N 61 rs429358 19 45410002 rs769449 2017-10-02 28800603 Arpawong TE 2017-08-11 PLoS One www.ncbi.nlm.nih.gov/pubmed/28800603 Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort. Verbal memory performance (residualized delayed recall level) 7,486 European ancestry individuals aged 50 years or older 6,898 European ancestry individuals aged 50 years or older 19q13.32 TOMM40, APOE, PVRL2 APOE ENSG00000130203 rs769449-A rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 3E-12 11.522878745280337 unit decrease Illumina [at least 1198956] (imputed) N 61 rs429358 19 45410002 rs769449 2018-12-06 30319691 Liu C 2018-09-24 Front Genet www.ncbi.nlm.nih.gov/pubmed/30319691 Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. Cerebrospinal fluid AB1-42 levels 235 early mild cognitive impairment cases, 249 late mild cognitive impairment cases, 47 Alzheimer's disease cases, 281 controls. NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 1E-18 18.0 301.1457 [NR] unit increase Illumina [575353] N 61 rs429358 19 45410002 rs769449 2018-12-06 30319691 Liu C 2018-09-24 Front Genet www.ncbi.nlm.nih.gov/pubmed/30319691 Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. Cerebrospinal fluid p-Tau181p:AB1-42 ratio 235 early mild cognitive impairment cases, 249 late mild cognitive impairment cases, 47 Alzheimer's disease cases, 281 controls. NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 6E-24 23.221848749616356 0.01467512 [NR] unit decrease Illumina [575353] N 61 rs429358 19 45410002 rs769449 2018-12-06 30319691 Liu C 2018-09-24 Front Genet www.ncbi.nlm.nih.gov/pubmed/30319691 Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. Cerebrospinal fluid t-tau:AB1-42 ratio 235 early mild cognitive impairment cases, 249 late mild cognitive impairment cases, 47 Alzheimer's disease cases, 281 controls. NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 4E-26 25.397940008672037 0.1421661 [NR] unit decrease Illumina [575353] N 61 rs429358 19 45410002 rs769449 2018-12-06 30319691 Liu C 2018-09-24 Front Genet www.ncbi.nlm.nih.gov/pubmed/30319691 Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. Cognitive impairment test score 235 early mild cognitive impairment cases, 249 late mild cognitive impairment cases, 47 Alzheimer's disease cases, 281 controls. NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 2E-14 13.698970004336019 3.677384 [NR] unit decrease Illumina [575353] N 61 rs429358 19 45410002 rs769449 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOE APOE ENSG00000130203 rs769449-A rs769449 0 769449 non_coding_transcript_exon_variant 0 0.15 6E-20 19.221848749616356 0.15 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 0.892 1E-47 47.0 (EA) 0.092 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 4E-52 51.39794000867204 0.089 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 0.892 5E-136 135.30102999566398 (EA) 0.195 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 0.911 7E-9 8.154901959985743 (East Asian) 0.174 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 0.914 5E-14 13.301029995663981 (Hispanic) 0.201 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 3E-157 156.52287874528034 0.194 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 0.892 5E-95 94.30102999566398 (EA) 0.159 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 0.911 3E-9 8.522878745280337 (East Asian) 0.177 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 0.914 7E-12 11.154901959985743 (Hispanic) 0.182 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 2E-114 113.69897000433602 0.162 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 0.892 5E-23 22.30102999566398 (EA) 0.069 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs769449-G rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 8E-29 28.096910013008056 0.072 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45410002 rs769449 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 2E-83 82.69897000433602 3.8717523 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45410002 rs769449 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 6E-47 46.221848749616356 (females) 3.7354689 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45410002 rs769449 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOE APOE ENSG00000130203 rs769449-? rs769449 0 769449 non_coding_transcript_exon_variant 0 NR 7E-30 29.154901959985743 (males) 3.921353 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45411941 rs429358 2010-02-12 20100581 Shen L 2010-01-22 Neuroimage www.ncbi.nlm.nih.gov/pubmed/20100581 Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. Brain imaging 175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 1E-7 7.0 (multiple phenotypes) Illumina [530992] N 61 rs429358 19 45411941 rs429358 2010-02-12 20100581 Shen L 2010-01-22 Neuroimage www.ncbi.nlm.nih.gov/pubmed/20100581 Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. Brain imaging 175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 1E-9 9.0 (grey matter density of the right hippocampus) Illumina [530992] N 61 rs429358 19 45411941 rs429358 2011-01-12 21123754 Kim S 2010-12-01 Neurology www.ncbi.nlm.nih.gov/pubmed/21123754 Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Alzheimer's disease biomarkers 96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 1E-6 6.0 (AB1-42, p-tau181p, p-tau181p/AB1-42, t-tau/AB1-42) Illumina [322557] N 61 rs429358 19 45411941 rs429358 2013-06-06 23419831 Ramanan VK 2013-02-19 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/23419831 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Alzheimer's disease biomarkers 555 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.28 5E-14 13.301029995663981 (Cortical Ab) Illumina [6108668] (imputed) N 61 rs429358 19 45411941 rs429358 2015-04-01 25027320 Ramirez A 2014-07-15 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/25027320 SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. Cerebrospinal AB1-42 levels in Alzheimer's disease dementia 363 European ancestry individuals 515 individuals 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 0.442 4E-17 16.397940008672037 0.4 [0.30-0.50] unit decrease Illumina [6812394] (imputed) N 61 rs429358 19 45411941 rs429358 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Lewy body disease up to 3,526 individuals NA 19q13.32 APOE, LOC100129500 APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.732 1E-12 12.0 (Ordinal I) 0.4997 [0.36-0.64] unit decrease Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45411941 rs429358 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Lewy body disease up to 3,526 individuals NA 19q13.32 APOE, LOC100129500 APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.7344 3E-11 10.522878745280337 (Case/control) 0.4905 [0.35-0.63] unit decrease Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45411941 rs429358 2015-07-28 25188341 Beecham GW 2014-09-04 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/25188341 Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. Lewy body disease up to 3,526 individuals NA 19q13.32 APOE, LOC100129500 APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.7347 5E-12 11.301029995663981 (Ordinal II) 0.508 [0.36-0.65] unit decrease Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45411941 rs429358 2016-07-08 25961943 Surakka I 2015-05-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/25961943 The impact of low-frequency and rare variants on lipid levels. HDL cholesterol up to 62,166 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.84 1E-14 14.0 0.066 [0.048-0.084] s.d. increase Affymetrix, Illumina, Perlegen [up to 9657952] (imputed) N 61 rs429358 19 45411941 rs429358 2016-09-08 26252872 Li QS 2015-08-07 PLoS One www.ncbi.nlm.nih.gov/pubmed/26252872 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level. Cerebral amyloid deposition (PET imaging) up to 883 European and other ancestry individuals NA 19q13.32 PVRL2, APOE, APOC1, APOC1P1, TOMM40 APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.02 8E-32 31.096910013008056 0.13 [NR] unit decrease Illumina [~ 9000000] (imputed) N 61 rs429358 19 45411941 rs429358 2016-09-08 26252872 Li QS 2015-08-07 PLoS One www.ncbi.nlm.nih.gov/pubmed/26252872 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level. Cerebral amyloid deposition positivity (PET imaging) up to 350 European and other ancestry positive individuals, up to 296 European and other ancestry negative individuals NA 19q13.32 APOE, APOC1, APOC1P1, PVRL2, TOMM40 APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.85 5E-20 19.30102999566398 4.72 [4.39-5.05] Illumina [~ 9000000] (imputed) N 61 rs429358 19 45411941 rs429358 2016-10-10 26691988 Fritsche LG 2015-12-21 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26691988 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Advanced age-related macular degeneration 16,144 European ancestry cases, 17,832 European ancestry controls 473 Asian ancestry cases, 1,099 Asian ancestry controls, 52 African ancestry cases, 361 African ancestry cases, 254 other non-European ancestry cases, 694 other non-European ancestry controls 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 2E-42 41.69897000433602 (EA) 1.4285715 Illumina [12023830] (imputed) N 61 rs429358 19 45411941 rs429358 2017-04-11 28078323 Raj T 2016-12-21 Neurol Genet www.ncbi.nlm.nih.gov/pubmed/28078323 Genetic architecture of age-related cognitive decline in African Americans. Cognitive decline (age-related) 3,964 African American ancestry individuals. NA 19q13.32 APOE, TOMM40 APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 2E-14 13.698970004336019 0.01 unit decrease Illumina [13900000] (imputed) N 61 rs429358 19 45411941 rs429358 2017-07-18 28240269 Suhre K 2017-02-27 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28240269 Connecting genetic risk to disease end points through the human blood plasma proteome. Blood protein levels 997 European ancestry individuals 338 Arab, South Asian and Filipino ancestry individuals 19q13.32 NR APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 2E-12 11.698970004336019 (EA, Apolipoprotein E) Affymetrix [509946] N 61 rs429358 19 45411941 rs429358 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Platelet count 166,066 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.1415 3E-9 8.522878745280337 0.0301972 [0.02-0.04] unit decrease Affymetrix [~ 2500000] (imputed) N 61 rs429358 19 45411941 rs429358 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Red cell distribution width 171,529 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.1416 8E-26 25.096910013008056 0.05202347 [0.042-0.062] unit decrease Affymetrix [~ 2500000] (imputed) N 61 rs429358 19 45411941 rs429358 2017-11-27 29030599 Joshi PK 2017-10-13 Nat Commun www.ncbi.nlm.nih.gov/pubmed/29030599 Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity. Parental lifespan up to 586,626 European ancestry individuals, up to 19,433 African ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.142 1E-27 27.0 (EA) 0.9 years decrease Affymetrix, Illumina [at least 13643373] (imputed) N 61 rs429358 19 45411941 rs429358 2017-12-19 27029810 Joshi PK 2016-03-31 Nat Commun www.ncbi.nlm.nih.gov/pubmed/27029810 Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan. Mortality 138,536 British ancestry mothers, 133,545 British ancestry fathers 24,168 European ancestry individuals, 681 African ancestry individuals, 962 Afro-Caribbean individuals, 1,613 South Asian ancestry individuals, 338 Chinese ancestry individuals 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 NR 1E-20 20.0 1.107 Affymetrix [73355667] (imputed) N 61 rs429358 19 45411941 rs429358 2018-02-09 29263008 Guerreiro R 2018-01-01 Lancet Neurol www.ncbi.nlm.nih.gov/pubmed/29263008 Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Dementia with Lewy bodies 1,216 European ancestry cases, 3,791 European ancestry controls 527 European ancestry cases, 663 European ancestry controls 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.14 3E-64 63.52287874528034 2.46 [2.22-2.74] Illumina [8397716] (imputed) N 61 rs429358 19 45411941 rs429358 2018-04-17 29458411 Chung J 2018-02-20 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/29458411 Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease. Neuritic plaques or cerebral amyloid angiopathy (pleiotropy) 3,135 European ancestry Alzheimer's disease cases, 463 European ancestry controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 5E-40 39.30102999566398 NR [6500000] (imputed) N 61 rs429358 19 45411941 rs429358 2018-04-17 29458411 Chung J 2018-02-20 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/29458411 Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease. Neuritic plaques or neurofibrillary tangles (pleiotropy) 3,135 European ancestry Alzheimer's disease cases, 463 European ancestry controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 3E-47 46.52287874528034 NR [6500000] (imputed) N 61 rs429358 19 45411941 rs429358 2018-04-17 29458411 Chung J 2018-02-20 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/29458411 Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease. Neurofibrillary tangles or cerebral amyloid angiopathy (pleiotropy) 3,135 European ancestry Alzheimer's diseases cases, 463 European ancestry controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 6E-35 34.221848749616356 NR [6500000] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 1E-14 14.0 (Stromal interaction molecule 1, STIM1.9271.101.3) 0.26 [0.2-0.32] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 1E-19 19.0 (ADP-ribosylation factor-like protein 1, ARL1.12392.30.3) 0.3 [0.24-0.36] unit decrease Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 1E-20 20.0 (Epididymal-specific lipocalin-10, LCN10.13007.66.3) 0.31 [0.25-0.37] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 1E-24 24.0 (Nuclear receptor-binding protein, NRBP1.12616.45.3) 0.34 [0.28-0.4] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 1E-25 25.0 (Beta-soluble NSF attachment protein, NAPB.12655.30.3) 0.35 [0.29-0.41] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 2E-96 95.69897000433602 (PH and SEC7 domain-containing protein 1, PSD.13055.53.3) 0.66 [0.6-0.72] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 3E-26 25.522878745280337 (PDZK1-interacting protein 1, PDZK1IP1.8260.13.3) 0.35 [0.29-0.41] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 3E-34 33.52287874528034 (Estrogen sulfotransferase, SULT1E1.9878.3.3) 0.4 [0.34-0.46] unit decrease Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 3E-418 417.52287874528037 (Leucine-rich repeat neuronal protein 1, LRRN1.11293.14.3) 1.18 [1.12-1.24] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 4E-148 147.39794000867204 (Cardiotrophin-1, CTF1.13732.79.3) 0.8 [0.74-0.86] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 4E-159 158.39794000867204 (Protein CEI, C5orf38.6378.2.3) 0.82 [0.76-0.88] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 5E-646 645.301029995664 (Tubulin-specific chaperone A, TBCA.12501.10.3) 1.34 [1.3-1.38] unit decrease Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 6E-35 34.221848749616356 (Selenoprotein S, VIMP.11286.78.3) 0.41 [0.35-0.47] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 7E-21 20.154901959985743 (Deoxycytidine kinase, DCK.9836.20.3) 0.31 [0.25-0.37] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 7E-30 29.154901959985743 (Adhesion G-protein coupled receptor F1, ADGRF1.11243.90.3) 0.38 [0.32-0.44] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 8E-12 11.096910013008056 (Epididymis-specific alpha-mannosidase, MAN2B2.9251.28.3) 0.23 [0.17-0.29] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.153 8E-26 25.096910013008056 (Killer cell immunoglobulin-like receptor 2DL5A, KIR2DL5A.7799.3.3) 0.35 [0.29-0.41] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-28 29403010 Kanai M 2018-02-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29403010 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. C-reactive protein levels 75,391 Japanese ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 7E-36 35.15490195998574 0.1086 [0.092-0.126] unit decrease novel Illumina [6108953] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-28 29403010 Kanai M 2018-02-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29403010 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. High density lipoprotein cholesterol levels 70,657 Japanese ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 2E-24 23.69897000433602 0.08948 [0.072-0.107] unit decrease novel Illumina [6108953] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-28 29403010 Kanai M 2018-02-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29403010 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. Low density lipoprotein cholesterol levels 72,866 Japanese ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 4E-71 70.39794000867204 0.1558 [0.14-0.17] unit increase novel Illumina [6108953] (imputed) N 61 rs429358 19 45411941 rs429358 2018-07-30 29403010 Kanai M 2018-02-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29403010 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. Total cholesterol levels 128,305 Japanese ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 2E-57 56.69897000433602 0.1052 [0.092-0.118] unit increase novel Illumina [6108953] (imputed) N 61 rs429358 19 45411941 rs429358 2018-08-16 29899525 Klimentidis YC 2018-06-13 Int J Obes (Lond) www.ncbi.nlm.nih.gov/pubmed/29899525 Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE. Moderate to vigorous physical activity levels 377,234 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.85 6E-13 12.221848749616356 0.022 unit decrease Affymetrix [11800000] (imputed) N 61 rs429358 19 45411941 rs429358 2018-08-16 29899525 Klimentidis YC 2018-06-13 Int J Obes (Lond) www.ncbi.nlm.nih.gov/pubmed/29899525 Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE. Vigorous physical activity 98,060 European ancestry active cases, 162,995 European ancestry inactive controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 5E-7 6.301029995663981 Affymetrix [11800000] (imputed) N 61 rs429358 19 45411941 rs429358 2018-08-22 29860282 Scelsi MA 2018-05-30 Brain www.ncbi.nlm.nih.gov/pubmed/29860282 Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. Alzheimer's disease progression score 944 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 4E-33 32.39794000867204 (uncorrected for APOE4 status and baseline cortical amyloid) Illumina [5137218] (imputed) N 61 rs429358 19 45411941 rs429358 2018-08-22 29860282 Scelsi MA 2018-05-30 Brain www.ncbi.nlm.nih.gov/pubmed/29860282 Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. Cortical amyloid beta load 936 European ancestry individuals NA 19q13.32 APOE4 APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 3E-50 49.52287874528034 (uncorrected for APOE4 status) Illumina [5137218] (imputed) N 61 rs429358 19 45411941 rs429358 2018-08-22 29860282 Scelsi MA 2018-05-30 Brain www.ncbi.nlm.nih.gov/pubmed/29860282 Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. Hippocampal volume 926 European ancestry individuals NA 19q13.32 APOE4 APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 1E-10 10.0 (uncorrected for APOE4 status) Illumina [5137218] (imputed) N 61 rs429358 19 45411941 rs429358 2018-11-26 30275531 Klarin D 2018-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30275531 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. HDL cholesterol 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals Up to 319,677 individuals 19q13.32 APOE APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.8416 1E-142 142.0 0.093 [0.086-0.1] mg dl−1 increase Affymetrix [up to 31400000] (imputed) N 61 rs429358 19 45411941 rs429358 2018-12-10 29227965 Pilling LC 2017-12-01 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/29227965 Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Parental longevity (both parents in top 10%) 7,182 cases, 79,767 controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.842 7E-46 45.15490195998574 0.0388 [0.034-0.044] unit increase Affymetrix [11535925] (imputed) N 61 rs429358 19 45411941 rs429358 2018-12-10 29227965 Pilling LC 2017-12-01 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/29227965 Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Parental longevity (combined parental age at death) 208,118 British ancestry individuals NA 19q13.32 APOE, APOC1 APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.842077 5E-22 21.30102999566398 0.0436 [0.035-0.052] unit increase Affymetrix [11535925] (imputed) N 61 rs429358 19 45411941 rs429358 2018-12-10 29227965 Pilling LC 2017-12-01 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/29227965 Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Parental longevity (combined parental attained age, Martingale residuals) 389,166 British ancestry individuals NA 19q13.32 APOE, APOC1 APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.845 1E-74 74.0 0.0566 [0.051-0.063] unit decrease Affymetrix [11535925] (imputed) N 61 rs429358 19 45411941 rs429358 2018-12-10 29227965 Pilling LC 2017-12-01 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/29227965 Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Parental longevity (father's age at death) 317,652 British ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.842 9E-13 12.045757490560675 0.0262 [0.019-0.033] unit increase Affymetrix [11535925] (imputed) N 61 rs429358 19 45411941 rs429358 2018-12-10 29227965 Pilling LC 2017-12-01 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/29227965 Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Parental longevity (father's attained age) 415,311 British ancestry individuals NA 19q13.32 APOE, APOC1 APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 NR 2E-28 27.69897000433602 Affymetrix [11535925] (imputed) N 61 rs429358 19 45411941 rs429358 2018-12-10 29227965 Pilling LC 2017-12-01 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/29227965 Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Parental longevity (mother's age at death) 246,941 British ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.842 7E-19 18.154901959985743 0.0336 [0.026-0.041] unit increase Affymetrix [11535925] (imputed) N 61 rs429358 19 45411941 rs429358 2018-12-10 29227965 Pilling LC 2017-12-01 Aging (Albany NY) www.ncbi.nlm.nih.gov/pubmed/29227965 Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. Parental longevity (mother's attained age) 412,937 British ancestry individuals NA 19q13.32 APOE, APOC1 APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 NR 1E-68 68.0 Affymetrix [11535925] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOE APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.21 9E-30 29.045757490560675 0.18 [NR] unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Cerebrospinal AB1-42 levels in mild cognitive impairment 581 European ancestry MCI dementia cases NA 19q13.32 APOE, BCAM, PVRL2, TOMM40, APOC1, APOC1P1, APOC4, APOC4-APOC2, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 6E-27 26.221848749616356 0.77 [0.63-0.91] unit decrease Illumina [8448490] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Cerebrospinal AB1-42 levels in normal cognition 305 European ancestry cognitively normal individuals NA 19q13.32 APOE, BCAM, PVRLTOMM40, APOC1, APOC1P1, APOC4, APOC4-APOC2, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 9E-11 10.045757490560675 0.84 [0.59-1.09] unit decrease Illumina [8257341] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Cerebrospinal fluid AB1-42 levels 305 European ancestry cognitively normal individuals, 581 European ancestry mild cognitive impairment cases, 190 European ancestry Alzheimer's disease dementia cases NA 19q13.32 APOE, BCAM, PVRL2, TOMM40, APOC1, APOC1P1, APOC4, APOC4-APOC2, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 1E-51 51.0 0.8 [0.7-0.9] unit decrease Illumina [8454933] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Cerebrospinal fluid p-tau levels 305 European ancestry cognitively normal individuals, 581 European ancestry mild cognitive impairment cases, 190 European ancestry Alzheimer's disease dementia cases NA 19q13.32 APOE, BCAM, PVRL2, OMM40, APOC1, APOC1P1, APOC4, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 3E-18 17.522878745280337 0.51 [0.39-0.63] unit increase Illumina [8454806] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Cerebrospinal fluid p-tau levels in mild cognitive impairment 581 European ancestry mild cognitive impairment cases NA 19q13.32 APOE, BCAM, PVRL2, TOMM40, APOC1, APOC1P1, APOC4, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 2E-11 10.698970004336019 0.53 [0.37-0.69] unit increase Illumina [8446615] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Cerebrospinal fluid t-tau levels 305 European ancestry cognitively normal individuals, 581 European ancestry mild cognitive impairment cases, 190 European ancestry Alzheimer's disease dementia cases NA 19q13.32 APOE, BCAM, PVRL2, TOMM40, APOC1, APOC1P1, APOC4, APOC4-APOC2, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 1E-20 20.0 0.55 [0.43-0.67] unit increase Illumina [8454470] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Cerebrospinal fluid t-tau levels in mild cognitive impairment 581 European ancestry cases NA 19q13.32 APOE, BCAM, PVRL2, TOMM40, APOC1, APOC1P1, APOC4, APOC4-APOC2, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 1E-13 13.0 0.57 [0.41-0.73] unit increase Illumina [8449920] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Hippocampal volume 305 European ancestry cognitively normal individuals, 581 European ancestry mild cognitive impairment cases, 190 European ancestry Alzheimer's disease dementia cases NA 19q13.32 APOE, BCAM, PVRL2, TOMM40, APOC1, APOC1P1, APOC4, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 2E-19 18.69897000433602 0.47 [0.37-0.57] unit decrease Illumina [8056701] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Logical memory (delayed recall) 305 European ancestry cognitively normal individuals, 581 European ancestry mild cognitive impairment cases, 190 European ancestry Alzheimer's disease dementia cases NA 19q13.32 APOE, BCAM, PVRL2, TOMM40, APOC1, APOC1P1, APOC4, APOC4-APOC2, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 2E-18 17.69897000433602 0.42 [0.32-0.52] unit decrease Illumina [8066948] (imputed) N 61 rs429358 19 45411941 rs429358 2019-01-31 29274321 Chung J 2017-12-20 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/29274321 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. Logical memory (immediate recall) 305 European ancestry cognitively normal individuals, 581 European ancestry mild cognitive impairment cases, 190 European ancestry Alzheimer's disease dementia cases NA 19q13.32 APOE, BCAM, PVRL2, TOMM40, APOC1, APOC1P1, APOC4, APOC4-APOC2, APOC2, CLPTM1, RELB APOE ENSG00000130203 rs429358-C rs429358 0 429358 missense_variant 0 0.25 2E-13 12.698970004336019 0.36 [0.26-0.46] unit decrease Illumina [8066948] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-08 30595370 Kichaev G 2018-12-27 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30595370 Leveraging Polygenic Functional Enrichment to Improve GWAS Power. Waist-hip ratio approximately 458,000 European ancestry individuals NA 19q13.32 APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 4E-18 17.397940008672037 NR [~ 8900000] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.868 6E-47 46.221848749616356 (EA) 0.084 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 NR 3E-50 49.52287874528034 0.08 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.789 2E-6 5.698970004336019 (AA) 0.151 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.868 2E-164 163.69897000433602 (EA) 0.199 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.885 5E-15 14.301029995663981 (Hispanic) 0.186 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.905 2E-7 6.698970004336019 (East Asian) 0.152 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 NR 3E-187 186.52287874528034 0.193 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.868 1E-123 123.0 (EA) 0.168 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.885 3E-14 13.522878745280337 (Hispanic) 0.18 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.905 3E-8 7.522878745280337 (East Asian) 0.162 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 NR 1E-145 145.0 0.167 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.868 9E-34 33.045757490560675 (EA) 0.078 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.905 1E-6 6.0 (East Asian) 0.129 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 NR 1E-39 39.0 0.077 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45411941 rs429358 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 1E-53 53.0 (females) 3.921738 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45411941 rs429358 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 2E-91 90.69897000433602 3.9972339 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45411941 rs429358 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOE APOE ENSG00000130203 rs429358-? rs429358 0 429358 missense_variant 0 NR 3E-31 30.522878745280337 (males) 3.8628085 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45411941 rs429358 2019-04-18 30388399 Ligthart S 2018-11-01 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30388399 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. C-reactive protein levels 148,164 European ancestry individuals NA 19q13.32 APOE APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.85 6E-363 362.22184874961636 (BMI-adjusted) 0.24 [0.23-0.25] unit increase Affymetrix, Illumina, Perlegen [10019203] (imputed) N 61 rs429358 19 45411941 rs429358 2019-04-18 30388399 Ligthart S 2018-11-01 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30388399 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. C-reactive protein levels 148,164 European ancestry individuals NA 19q13.32 APOE, APOC1 APOE ENSG00000130203 rs429358-T rs429358 0 429358 missense_variant 0 0.85 4E-328 327.39794000867204 0.247 [0.24-0.26] unit increase Affymetrix, Illumina, Perlegen [10019203] (imputed) N 61 rs429358 19 45415713 rs10414043 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOE, APOC1 AC011481.3 ENSG00000267282 rs10414043-A rs10414043 0 10414043 non_coding_transcript_exon_variant 0 0.17 2E-20 19.69897000433602 0.15 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45415935 rs7256200 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOE, APOC1 AC011481.3 ENSG00000267282 rs7256200-T rs7256200 0 7256200 non_coding_transcript_exon_variant 0 0.17 1E-19 19.0 0.15 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45416178 rs483082 2017-06-27 28183528 Jun GR 2017-02-06 Alzheimers Dement www.ncbi.nlm.nih.gov/pubmed/28183528 Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimer's disease 13,100 European ancestry cases, 13,220 European ancestry controls, 1,472 African American cases, 3,511 African American controls, 951 Japanese ancestry cases, 894 Japanese ancestry controls, 51 Israeli-Arab ancestry cases, 64 Israeli-Arab ancestry controls 5,813 European ancestry cases, 20,474 European ancestry controls 19q13.32 NR AC011481.3 ENSG00000267282 rs483082-T rs483082 0 483082 non_coding_transcript_exon_variant 0 NR 1E-15 15.0 (Japanese) 2.8 [2.17-3.61] NR [NR] N 61 rs429358 19 45416178 rs483082 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOC1 AC011481.3 ENSG00000267282 rs483082-T rs483082 0 483082 non_coding_transcript_exon_variant 0 0.231 4E-21 20.397940008672037 (Glutathione S-transferase Mu 1, GSTM1.7239.9.3) 0.27 [0.21-0.33] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45416178 rs483082 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOE, APOC1 AC011481.3 ENSG00000267282 rs483082-T rs483082 0 483082 non_coding_transcript_exon_variant 0 0.29 1E-13 13.0 0.11 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45416178 rs483082 2019-03-28 30718733 Moon S 2019-02-04 Sci Rep www.ncbi.nlm.nih.gov/pubmed/30718733 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. Triglyceride levels 6,949 Korean ancestry individuals 6,000 Korean ancestry individuals 19q13.32 APOE AC011481.3 ENSG00000267282 rs483082-T rs483082 0 483082 non_coding_transcript_exon_variant 0 0.169 3E-10 9.522878745280337 0.0706 [0.049-0.093] unit increase Affymetrix [at least 805769] (imputed) N 61 rs429358 19 45416178 rs483082 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOC1 AC011481.3 ENSG00000267282 rs483082-? rs483082 0 483082 non_coding_transcript_exon_variant 0 0.734105 1E-37 37.0 (females) 2.6149259 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45416178 rs483082 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOC1 AC011481.3 ENSG00000267282 rs483082-? rs483082 0 483082 non_coding_transcript_exon_variant 0 0.738441 1E-62 62.0 2.6436493 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45416741 rs438811 2016-07-08 25961943 Surakka I 2015-05-11 Nat Genet www.ncbi.nlm.nih.gov/pubmed/25961943 The impact of low-frequency and rare variants on lipid levels. Triglycerides up to 62,166 European ancestry individuals NA 19q13.32 APOE AC011481.3 ENSG00000267282 rs438811-T rs438811 0 438811 non_coding_transcript_exon_variant 0 0.24 9E-37 36.045757490560675 0.096 [0.08-0.112] s.d. increase Affymetrix, Illumina, Perlegen [up to 9657952] (imputed) N 61 rs429358 19 45416741 rs438811 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOC1 AC011481.3 ENSG00000267282 rs438811-T rs438811 0 438811 non_coding_transcript_exon_variant 0 0.232 2E-15 14.698970004336019 (Beta-1,3-N-acetylglucosaminyltransferase radical fringe, RFNG.7203.125.3) 0.23 [0.17-0.29] unit decrease Affymetrix [10572788] (imputed) N 61 rs429358 19 45416741 rs438811 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOC1 AC011481.3 ENSG00000267282 rs438811-T rs438811 0 438811 non_coding_transcript_exon_variant 0 0.232 2E-20 19.69897000433602 (TOM1-like protein 1, TOM1L1.13652.2.3) 0.27 [0.21-0.33] unit decrease Affymetrix [10572788] (imputed) N 61 rs429358 19 45416741 rs438811 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOC1 AC011481.3 ENSG00000267282 rs438811-T rs438811 0 438811 non_coding_transcript_exon_variant 0 0.232 4E-230 229.39794000867204 (CUB and zona pellucida-like domain-containing protein 1, CUZD1.7943.16.3) 0.82 [0.76-0.88] unit decrease Affymetrix [10572788] (imputed) N 61 rs429358 19 45416741 rs438811 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOC1 AC011481.3 ENSG00000267282 rs438811-T rs438811 0 438811 non_coding_transcript_exon_variant 0 0.232 8E-34 33.096910013008056 (Protein MENT, MENT.5744.12.3) 0.35 [0.29-0.41] unit increase Affymetrix [10572788] (imputed) N 61 rs429358 19 45416741 rs438811 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOC1 AC011481.3 ENSG00000267282 rs438811-T rs438811 0 438811 non_coding_transcript_exon_variant 0 0.232 9E-875 874.0457574905607 (Protein S100-A13, S100A13.7223.60.3) 1.24 [1.2-1.28] unit decrease Affymetrix [10572788] (imputed) N 61 rs429358 19 45416741 rs438811 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOE, APOC1 AC011481.3 ENSG00000267282 rs438811-T rs438811 0 438811 non_coding_transcript_exon_variant 0 0.3 5E-14 13.301029995663981 0.11 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 0.762 3E-7 6.522878745280337 (EA) 0.024 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 NR 3E-6 5.522878745280337 0.02 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 0.762 6E-45 44.221848749616356 (EA) 0.082 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 0.883 9E-6 5.045757490560675 (East Asian) 0.123 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 NR 3E-42 41.52287874528034 0.073 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 0.762 1E-11 11.0 (EA) 0.039 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 0.883 1E-7 7.0 (East Asian) 0.146 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 NR 5E-9 8.301029995663981 0.031 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 0.762 1E-69 69.0 (EA) 0.091 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 0.883 2E-7 6.698970004336019 (East Asian) 0.132 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45416741 rs438811 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR AC011481.3 ENSG00000267282 rs438811-C rs438811 0 438811 non_coding_transcript_exon_variant 0 NR 3E-75 74.52287874528034 0.087 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45418790 rs5117 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOC1 APOC1 ENSG00000130208 rs5117-C rs5117 0 5117 intron_variant 0 0.28 3E-13 12.522878745280337 0.1 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45422160 rs12721051 2017-03-27 27798624 Eppinga RN 2016-10-31 Nat Genet www.ncbi.nlm.nih.gov/pubmed/27798624 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality. Resting heart rate 127,919 European ancestry individuals, 2,478 Asian ancestry individuals, 1,734 Black individuals, 684 Mixed ancestry individuals, 1,436 individuals 130,795 European ancestry individuals 19q13.32 APOE, APOC1, PVRL2 APOC1 ENSG00000130208 rs12721051-G rs12721051 0 12721051 3_prime_UTR_variant 0 0.18 5E-11 10.301029995663981 0.2874 [0.2-0.37] unit decrease Affymetrix [19941912] (imputed) N 61 rs429358 19 45422160 rs12721051 2018-11-26 30275531 Klarin D 2018-10-01 Nat Genet www.ncbi.nlm.nih.gov/pubmed/30275531 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. Total cholesterol levels 215,551 European ancestry individuals, 57,332 African American individuals, 24,743 Hispanic individuals Up to 319,677 individuals 19q13.32 APOC1 APOC1 ENSG00000130208 rs12721051-C rs12721051 0 12721051 3_prime_UTR_variant 0 0.8427 1E-179 179.0 0.1061 [0.099-0.113] mg dl−1 decrease Affymetrix [up to 31400000] (imputed) N 61 rs429358 19 45422160 rs12721051 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOC1 APOC1 ENSG00000130208 rs12721051-G rs12721051 0 12721051 3_prime_UTR_variant 0 0.24 3E-21 20.522878745280337 0.14 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45422846 rs56131196 2013-06-06 23419831 Ramanan VK 2013-02-19 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/23419831 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Alzheimer's disease biomarkers 555 European ancestry individuals NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-A rs56131196 0 56131196 intergenic_variant 1 0.29 4E-12 11.397940008672037 (Cortical Ab) Illumina [6108668] (imputed) N 61 rs429358 19 45422846 rs56131196 2016-09-12 26343387 Nikpay M 2015-09-07 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26343387 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Myocardial infarction 27,509 European ancestry cases, 130 African American cases, 278 Hispanic American cases, 10,257 South Asian ancestry cases, 288 Lebanese ancestry cases, 1,687 East Asian ancestry cases, 99,121 European ancestry controls, 2,778 African American controls, 3,337 Hispanic American controls, 12,899 South Asian ancestry controls, 466 Lebanese ancestry controls, 7,709 East Asian ancestry controls NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-A rs56131196 0 56131196 intergenic_variant 1 0.16 4E-8 7.3979400086720375 1.09 [1.06-1.12] Affymetrix, Illumina [8600000] (imputed) N 61 rs429358 19 45422846 rs56131196 2016-12-08 26830138 Herold C 2016-02-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/26830138 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. Alzheimer disease and age of onset 2,478 European ancestry cases, 979 ancestry controls both from the same 1,070 families NA 19q13.32 Intergenic APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-A rs56131196 0 56131196 intergenic_variant 1 NR 3E-24 23.522878745280337 (within families) 10.157 unit increase Affymetrix [up to 15107142] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-A rs56131196 0 56131196 intergenic_variant 1 0.25 1E-20 20.0 0.14 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.835 1E-49 49.0 (EA) 0.078 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 NR 8E-53 52.096910013008056 0.074 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.835 2E-157 156.69897000433602 (EA) 0.174 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.883 1E-6 6.0 (Hispanic) 0.115 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.897 1E-6 6.0 (East Asian) 0.135 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 NR 6E-163 162.22184874961636 0.163 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.835 6E-114 113.22184874961636 (EA) 0.145 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.883 5E-6 5.301029995663981 (Hispanic) 0.106 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.897 1E-7 7.0 (East Asian) 0.147 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 NR 2E-120 119.69897000433602 0.137 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.835 2E-32 31.69897000433602 (EA) 0.068 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 0.897 3E-6 5.522878745280337 (East Asian) 0.118 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-G rs56131196 0 56131196 intergenic_variant 1 NR 8E-35 34.096910013008056 0.065 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-? rs56131196 0 56131196 intergenic_variant 1 NR 3E-24 23.522878745280337 (males) 3.3117516 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-? rs56131196 0 56131196 intergenic_variant 1 NR 4E-48 47.39794000867204 (females) 3.2052002 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45422846 rs56131196 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 240 7215 rs56131196-? rs56131196 0 56131196 intergenic_variant 1 NR 6E-77 76.22184874961636 3.2625577 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45422946 rs4420638 2008-06-16 18193044 Kathiresan S 2008-01-13 Nat Genet www.ncbi.nlm.nih.gov/pubmed/18193044 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. LDL cholesterol 2,758 European ancestry individuals 18,544 European ancestry individuals 19q13.32 APOC2, APOE, APOC4, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.2 1E-60 60.0 0.19 [0.15-0.23] unit increase Affymetrix [389878] N 61 rs429358 19 45422946 rs4420638 2008-09-08 17474819 Coon KD 2007-04-01 J Clin Psychiatry www.ncbi.nlm.nih.gov/pubmed/17474819 A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. Alzheimer's disease (late onset) 664 European ancestry cases, 422 European ancestry controls NA 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 1E-39 39.0 4.01 [NR] Affymetrix [~ 502627] N 61 rs429358 19 45422946 rs4420638 2008-09-15 17975299 Webster JA 2007-11-01 Neurodegener Dis www.ncbi.nlm.nih.gov/pubmed/17975299 Sorl1 as an Alzheimer's disease predisposition gene? Alzheimer's disease 664 cases, 422 controls NA 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 1E-39 39.0 Affymetrix [~ 502627] N 61 rs429358 19 45422946 rs4420638 2008-09-15 18262040 Sandhu MS 2008-02-09 Lancet www.ncbi.nlm.nih.gov/pubmed/18262040 LDL-cholesterol concentrations: a genome-wide association study. LDL cholesterol 11,685 European ancestry individuals Up to 4,979 European ancestry individuals 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.18 1E-20 20.0 0.06 [0.04-0.08] mmol/L increase Affymetrix, Illumina [up to 461986] N 61 rs429358 19 45422946 rs4420638 2008-09-16 18193043 Willer CJ 2008-01-13 Nat Genet www.ncbi.nlm.nih.gov/pubmed/18193043 Newly identified loci that influence lipid concentrations and risk of coronary artery disease. LDL cholesterol 8,589 European ancestry individuals 12,981 European ancestry individuals 19q13.32 APOE, APOC4, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.18 3E-43 42.52287874528034 6.61 [NR] mg/dl increase Affymetrix, Illumina [~ 2261000] (imputed) N 61 rs429358 19 45422946 rs4420638 2008-12-09 18802019 Burkhardt R 2008-09-18 Arterioscler Thromb Vasc Biol www.ncbi.nlm.nih.gov/pubmed/18802019 Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. LDL cholesterol 2,346 Micronesian ancestry individuals NA 19q13.32 APOC2, APOE, APOC4, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 2E-7 6.698970004336019 Affymetrix [~ 500000] N 61 rs429358 19 45422946 rs4420638 2009-01-14 19060906 Kathiresan S 2008-12-07 Nat Genet www.ncbi.nlm.nih.gov/pubmed/19060906 Common variants at 30 loci contribute to polygenic dyslipidemia. LDL cholesterol 19,840 European ancestry individuals Up to 20,623 European ancestry individuals 19q13.32 APOC2, APOE, APOC4, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.16 4E-27 26.397940008672037 0.29 [0.17-0.41] s.d. increase Affymetrix, Illumina [~ 2600000] (imputed) N 61 rs429358 19 45422946 rs4420638 2009-07-12 19567438 Elliott P 2009-07-01 JAMA www.ncbi.nlm.nih.gov/pubmed/19567438 Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. C-reactive protein 17,967 European ancestry and Indian Asian ancestry individuals 13,615 European ancestry and Indian Asian ancestry Individuals 19q13.32 APOE, APOCII, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 NR 5E-27 26.30102999566398 21.8 [18.1-25.3] % decrease Affymetrix, Illumina, Perlegen [~ 1400000] (imputed) N 61 rs429358 19 45422946 rs4420638 2009-09-28 17998437 Li H 2007-11-12 Arch Neurol www.ncbi.nlm.nih.gov/pubmed/17998437 Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Alzheimer's disease 753 European ancestry cases, 736 European ancestry controls 418 European ancestry cases, 249 European ancestry controls 19q13.32 APOE, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 2E-44 43.69897000433602 Affymetrix [469438] N 61 rs429358 19 45422946 rs4420638 2009-10-15 19197348 Lowe JK 2009-02-06 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/19197348 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Quantitative traits 2,906 Kosraen individuals NA 19q13.32 APOC2, APOE, APOC4, TOMM40, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.21 2E-6 5.698970004336019 (CRP) 0.28 [NR] mg/L decrease Affymetrix [408775] N 61 rs429358 19 45422946 rs4420638 2009-10-15 19197348 Lowe JK 2009-02-06 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/19197348 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Quantitative traits 2,906 Kosraen individuals NA 19q13.32 APOC2, APOE, APOC4, TOMM40, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.21 3E-7 6.522878745280337 (TC) 0.28 [NR] mg/dL increase Affymetrix [408775] N 61 rs429358 19 45422946 rs4420638 2009-10-15 19197348 Lowe JK 2009-02-06 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/19197348 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Quantitative traits 2,906 Kosraen individuals NA 19q13.32 APOC2, APOE, APOC4, TOMM40, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.21 5E-6 5.301029995663981 (TG) 0.22 [NR] mg/dL increase Affymetrix [408775] N 61 rs429358 19 45422946 rs4420638 2010-05-26 20442857 Suchindran S 2010-04-29 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/20442857 Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study. Lipoprotein-associated phospholipase A2 activity and mass 6,668 European ancestry individuals NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.16 6E-24 23.221848749616356 (activity) 8.0 [NR] nmol/ml/min increase Affymetrix [360811] N 61 rs429358 19 45422946 rs4420638 2010-10-17 20864672 Waterworth DM 2010-09-23 Arterioscler Thromb Vasc Biol www.ncbi.nlm.nih.gov/pubmed/20864672 Genetic variants influencing circulating lipid levels and risk of coronary artery disease. LDL cholesterol up to 17,723 European ancestry individuals up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals 19q13.32 APOC2, APOE, APOC4, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.18 2E-40 39.69897000433602 0.06 [0.05-0.07] unit increase Affymetrix, Illumina, Perlegen [2155369] (imputed) N 61 rs429358 19 45422946 rs4420638 2011-01-16 21196492 Okada Y 2010-12-31 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/21196492 Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus. C-reactive protein 10,112 Japanese ancestry individuals 2,742 Japanese ancestry individuals 19q13.32 APOE-CI-CII cluster APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.90 3E-7 6.522878745280337 0.136 [0.09-0.19] unit increase Illumina [477784] N 61 rs429358 19 45422946 rs4420638 2011-07-20 21740922 Nebel A 2011-06-29 Mech Ageing Dev www.ncbi.nlm.nih.gov/pubmed/21740922 A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals. Longevity 763 European ancestry individuals, 1,058 European ancestry individuals 754 European ancestry individuals, 860 European ancestry individuals 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 0.81 2E-16 15.698970004336019 Affymetrix [664472] N 61 rs429358 19 45422946 rs4420638 2011-11-16 22003152 Grallert H 2011-10-14 Eur Heart J www.ncbi.nlm.nih.gov/pubmed/22003152 Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. Lipoprotein-associated phospholipase A2 activity and mass 12,126 European ancestry individuals, 1,538 individuals NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.84 5E-30 29.30102999566398 (Activity concentrations) 0.054 [0.044-0.064] unit decrease Affymetrix, Illumina [2661766] (imputed) N 61 rs429358 19 45422946 rs4420638 2011-12-03 22054870 De Jager PL 2011-11-03 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/22054870 A genome-wide scan for common variants affecting the rate of age-related cognitive decline. Cognitive decline 749 European ancestry individuals 1,562 European ancestry individuals, 717 cases 19q13.32 APOE, TOMM40 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 4E-27 26.397940008672037 Affymetrix [672266] N 61 rs429358 19 45422946 rs4420638 2012-01-25 20686565 Teslovich TM 2010-08-05 Nature www.ncbi.nlm.nih.gov/pubmed/20686565 Biological, clinical and population relevance of 95 loci for blood lipids. Cholesterol, total 100,184 European ancestry individuals NA 19q13.32 APOC2, APOE, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.17 5E-111 110.30102999566398 6.83 [6.2-7.46] mg/dL increase Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) N 61 rs429358 19 45422946 rs4420638 2012-01-25 20686565 Teslovich TM 2010-08-05 Nature www.ncbi.nlm.nih.gov/pubmed/20686565 Biological, clinical and population relevance of 95 loci for blood lipids. HDL cholesterol 99,900 European ancestry individuals NA 19q13.32 APOC2, APOE, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.17 4E-21 20.397940008672037 1.06 [0.82-1.3] mg/dL decrease Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) N 61 rs429358 19 45422946 rs4420638 2012-01-25 20686565 Teslovich TM 2010-08-05 Nature www.ncbi.nlm.nih.gov/pubmed/20686565 Biological, clinical and population relevance of 95 loci for blood lipids. LDL cholesterol 95,454 European ancestry individuals NA 19q13.32 APOC2, APOE, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.17 9E-147 146.04575749056067 7.14 [6.57-7.71] mg/dL increase Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) N 61 rs429358 19 45422946 rs4420638 2012-08-14 22832961 Kamboh MI 2012-05-15 Transl Psychiatry www.ncbi.nlm.nih.gov/pubmed/22832961 Genome-wide association study of Alzheimer's disease. Alzheimer's disease 1,291 European ancestry cases, 938 European ancestry controls 509 European ancestry cases, 753 European ancestry controls, 2,218 cases, 2,583 controls 19q13.32 APOE, TOMM40, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 8E-149 148.09691001300806 3.45 [NR] Illumina [2543888] (imputed) N 61 rs429358 19 45422946 rs4420638 2013-07-31 23455636 Fritsche LG 2013-03-03 Nat Genet www.ncbi.nlm.nih.gov/pubmed/23455636 Seven new loci associated with age-related macular degeneration. Age-related macular degeneration 6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls 9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.83 2E-20 19.69897000433602 1.3 [1.24-1.36] Affymetrix, Illumina [2442884] (imputed) N 61 rs429358 19 45422946 rs4420638 2014-03-22 24023261 Keller M 2013-09-10 J Lipid Res www.ncbi.nlm.nih.gov/pubmed/24023261 THOC5: a novel gene involved in HDL-cholesterol metabolism. Lipid traits 839 European ancestry individuals up to 5,248 European ancestry individuals 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.17 1E-14 14.0 (LDL-C) 0.25 unit increase Affymetrix [390619] N 61 rs429358 19 45422946 rs4420638 2014-05-12 24097068 Willer CJ 2013-10-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24097068 Discovery and refinement of loci associated with lipid levels. Cholesterol, total 94,595 European ancestry individuals 93,982 European ancestry individuals 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.19 1E-149 149.0 0.197 [NR] unit increase NR [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2014-05-12 24097068 Willer CJ 2013-10-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24097068 Discovery and refinement of loci associated with lipid levels. HDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.19 2E-21 20.69897000433602 0.067 [NR] unit decrease NR [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2014-05-12 24097068 Willer CJ 2013-10-06 Nat Genet www.ncbi.nlm.nih.gov/pubmed/24097068 Discovery and refinement of loci associated with lipid levels. LDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.19 2E-178 177.69897000433602 0.225 [NR] unit increase NR [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2014-10-29 24688116 Deelen J 2014-03-31 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/24688116 Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. Longevity (85 years and older) 7,729 European ancestry cases, 16,121 European ancestry controls 13,060 European ancestry cases, 61,156 European ancestry controls 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 0.798 2E-26 25.69897000433602 1.22 [1.18-1.27] Illumina [2480356] (imputed) N 61 rs429358 19 45422946 rs4420638 2014-10-29 24688116 Deelen J 2014-03-31 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/24688116 Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. Longevity (90 years and older) 5,406 European ancestry cases, 15,112 European ancestry controls 7,330 European ancestry cases, 61,156 European ancestry controls 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 0.798 3E-36 35.52287874528034 1.39 [1.32-1.47] Illumina [2470825] (imputed) N 61 rs429358 19 45422946 rs4420638 2015-05-11 22005931 Kamboh MI 2011-10-18 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/22005931 Genome-wide association analysis of age-at-onset in Alzheimer's disease. Alzheimer's disease (age of onset) 1,190 European ancestry cases, 1,032 cases NA 19q13.32 APOE, TOMM40, APOC1, PVRL2 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 1E-12 12.0 2.2018 unit increase Illumina [2543888] (imputed) N 61 rs429358 19 45422946 rs4420638 2015-05-23 21300955 Dehghan A 2011-02-07 Circulation www.ncbi.nlm.nih.gov/pubmed/21300955 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. C-reactive protein levels 63,678 European ancestry individuals 1,792 Erasmus Rucphen individuals, 715 Orcadian individuals 16,540 European ancestry individuals 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 9E-139 138.04575749056067 0.236 [0.22-0.26] unit increase Affymetrix, Illumina [~ 2500000] (imputed) N 61 rs429358 19 45422946 rs4420638 2015-09-22 25648963 Debette S 2014-11-25 Biol Psychiatry www.ncbi.nlm.nih.gov/pubmed/25648963 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Verbal declarative memory Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals Up to 10,617 European ancestry individuals, up to 3,811 African American individuals 19q13.32 APOC1, APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.18 1E-16 16.0 (PAR-dr) Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2015-09-22 25648963 Debette S 2014-11-25 Biol Psychiatry www.ncbi.nlm.nih.gov/pubmed/25648963 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Verbal declarative memory Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals Up to 10,617 European ancestry individuals, up to 3,811 African American individuals 19q13.32 APOC1, APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.18 1E-16 16.0 (PAR-dr, EA) Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2015-09-22 25648963 Debette S 2014-11-25 Biol Psychiatry www.ncbi.nlm.nih.gov/pubmed/25648963 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Verbal declarative memory Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals Up to 10,617 European ancestry individuals, up to 3,811 African American individuals 19q13.32 APOC1, APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.18 2E-12 11.698970004336019 (ALL-dr) Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2015-09-22 25648963 Debette S 2014-11-25 Biol Psychiatry www.ncbi.nlm.nih.gov/pubmed/25648963 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Verbal declarative memory Up to 27,337 European ancestry individuals, up to 472 Korkulan individuals, up to 1,267 Erasmus Rucphen Family individuals Up to 10,617 European ancestry individuals, up to 3,811 African American individuals 19q13.32 APOC1, APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.18 6E-13 12.221848749616356 (ALL-dr, EA) Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2016-09-12 26343387 Nikpay M 2015-09-07 Nat Genet www.ncbi.nlm.nih.gov/pubmed/26343387 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Coronary artery disease 42,096 European ancestry cases, 361 African American cases, 758 Hispanic American cases, 12,658 South Asian ancestry cases, 1,802 Lebanese ancestry cases, 3,614 East Asian ancestry cases, 99,121 European ancestry controls, 2,778 African American controls, 3,337 Hispanic American controls, 12,899 South Asian ancestry controls, 466 Lebanese ancestry controls, 7,709 East Asian ancestry controls NA 19q13.32 APOE, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.166036 7E-11 10.154901959985743 1.1 [1.07- 1.13] Affymetrix, Illumina [8600000] (imputed) N 61 rs429358 19 45422946 rs4420638 2016-09-12 26421299 Li J 2015-09-03 Biomed Res Int www.ncbi.nlm.nih.gov/pubmed/26421299 Genetic Interactions Explain Variance in Cingulate Amyloid Burden: An AV-45 PET Genome-Wide Association and Interaction Study in the ADNI Cohort. Cingulate cortical amyloid beta load 215 European ancestry early mild cognitive impairment cases, 152 European ancestry late mild cognitive impairment cases, 45 European ancestry Alzheimer disease cases, 190 European ancestry controls NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 5E-21 20.30102999566398 Illumina [582718] N 61 rs429358 19 45422946 rs4420638 2016-12-08 26830138 Herold C 2016-02-02 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/26830138 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. Alzheimer disease and age of onset 2,478 European ancestry cases, 979 ancestry controls both from the same 1,070 families NA 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 2E-16 15.698970004336019 (between families) Affymetrix [up to 15107142] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-02-25 27286809 Ligthart S 2016-06-10 BMC Genomics www.ncbi.nlm.nih.gov/pubmed/27286809 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. C-reactive protein levels or HDL-cholesterol levels (pleiotropy) 65,000 individuals (C-reactive protein), 99,900 individuals (HDL-cholesterol) NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 2E-164 163.69897000433602 NR [2501543] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-02-25 27286809 Ligthart S 2016-06-10 BMC Genomics www.ncbi.nlm.nih.gov/pubmed/27286809 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. C-reactive protein levels or LDL-cholesterol levels (pleiotropy) 65,000 individuals (C-reactive protein), 95,454 individuals (LDL-cholesterol) NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 1E-283 283.0 NR [2501749] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-02-25 27286809 Ligthart S 2016-06-10 BMC Genomics www.ncbi.nlm.nih.gov/pubmed/27286809 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. C-reactive protein levels or total cholesterol levels (pleiotropy) 65,000 individuals (C-reactive protein), 100,184 individuals (total cholesterol) NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 4E-249 248.39794000867204 NR [2501549] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-02-25 27286809 Ligthart S 2016-06-10 BMC Genomics www.ncbi.nlm.nih.gov/pubmed/27286809 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. C-reactive protein levels or triglyceride levels (pleiotropy) 65,000 individuals (C-reactive protein), 96,598 individuals (triglycerides) NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 2E-171 170.69897000433602 NR [25015711] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-05-15 27790247 He L 2016-11-03 Front Genet www.ncbi.nlm.nih.gov/pubmed/27790247 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. Age-related disease endophenotypes 9,618 European ancestry individuals 19,796 European ancestry individuals 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 2E-25 24.69897000433602 Affymetrix [NR] N 61 rs429358 19 45422946 rs4420638 2017-05-15 27790247 He L 2016-11-03 Front Genet www.ncbi.nlm.nih.gov/pubmed/27790247 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. Age-related diseases, mortality and associated endophenotypes 9,618 European ancestry individuals 19,796 European ancestry individuals 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 1E-22 22.0 Affymetrix [NR] N 61 rs429358 19 45422946 rs4420638 2017-05-15 28046027 Kim T 2017-01-03 PLoS One www.ncbi.nlm.nih.gov/pubmed/28046027 Genome-Wide Association Study Reveals Four Loci for Lipid Ratios in the Korean Population and the Constitutional Subgroup. LDL cholesterol to HDL cholesterol ratio 5,292 Korean ancestry individuals 2,567 Korean ancestry individuals 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 8E-11 10.096910013008056 0.1525 [0.11-0.2] unit increase Affymetrix [310746] N 61 rs429358 19 45422946 rs4420638 2017-06-26 28334899 Spracklen CN 2017-02-21 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334899 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. HDL cholesterol levels 25,169 East Asian ancestry individuals 45,953 East Asian ancestry individuals 19q13.32 APOE, APOC1, APOC2 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.89 5E-12 11.301029995663981 (BMI unadjusted) 0.109 [0.078-0.14] unit increase Affymetrix, Illumina [~ 2400000] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-06-26 28334899 Spracklen CN 2017-02-21 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334899 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. HDL cholesterol levels 34,930 East Asian ancestry individuals, 187,167 European ancestry individuals 8,741 Chinese ancestry individuals 19q13.32 APOE, APOC1, APOC2 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.814 6E-34 33.221848749616356 (Trans-ethnic initial) 0.0669 [0.054-0.08] unit increase (EA Beta values) Affymetrix, Illumina [~ 1900000] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-06-26 28334899 Spracklen CN 2017-02-21 Hum Mol Genet www.ncbi.nlm.nih.gov/pubmed/28334899 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. HDL cholesterol levels 34,930 East Asian ancestry individuals, 187,167 European ancestry individuals 8,741 Chinese ancestry individuals 19q13.32 APOE, APOC1, APOC2 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.88 9E-17 16.045757490560675 (Asian initial, BMI unadjusted) 0.11 [0.085-0.135] unit increase Affymetrix, Illumina [~ 1900000] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-07-18 28240269 Suhre K 2017-02-27 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28240269 Connecting genetic risk to disease end points through the human blood plasma proteome. Blood protein levels 997 European ancestry individuals 338 Arab, South Asian and Filipino ancestry individuals 19q13.32 APOC1, CTB-129P6.7 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.1730382 2E-13 12.698970004336019 (EA, Apolipoprotein E (isoform E2)) 0.4193 [0.31-0.53] unit increase Affymetrix [509946] N 61 rs429358 19 45422946 rs4420638 2017-07-18 28240269 Suhre K 2017-02-27 Nat Commun www.ncbi.nlm.nih.gov/pubmed/28240269 Connecting genetic risk to disease end points through the human blood plasma proteome. Blood protein levels 997 European ancestry individuals 338 Arab, South Asian and Filipino ancestry individuals 19q13.32 APOC1, CTB-129P6.7 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.1730382 3E-14 13.522878745280337 (EA, Small nuclear ribonucleoprotein F) 0.4345 [0.32-0.54] unit decrease Affymetrix [509946] N 61 rs429358 19 45422946 rs4420638 2017-08-10 28641921 Li J 2017-05-15 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/28641921 Genome-wide association and interaction studies of CSF T-tau/Aβ42 ratio in ADNI cohort. Cerebrospinal fluid AB1-42 levels 113 European ancestry Alzheimer's disease cases, 207 European ancestry individuals with late mild cognitive impairment, 239 European ancestry individuals with early mild cognitive impairment, 85 European ancestry individuals with significant memory concern, 199 European ancestry controls. NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 6E-42 41.221848749616356 Illumina [563980] N 61 rs429358 19 45422946 rs4420638 2017-08-10 28641921 Li J 2017-05-15 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/28641921 Genome-wide association and interaction studies of CSF T-tau/Aβ42 ratio in ADNI cohort. Cerebrospinal fluid t-tau levels 113 European ancestry Alzheimer's disease cases, 207 European ancestry individuals with late mild cognitive impairment, 239 European ancestry individuals with early mild cognitive impairment, 85 European ancestry individuals with significant memory concern, 199 European ancestry controls. NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 2E-13 12.698970004336019 Illumina [563980] N 61 rs429358 19 45422946 rs4420638 2017-08-10 28641921 Li J 2017-05-15 Neurobiol Aging www.ncbi.nlm.nih.gov/pubmed/28641921 Genome-wide association and interaction studies of CSF T-tau/Aβ42 ratio in ADNI cohort. Cerebrospinal fluid t-tau:AB1-42 ratio 113 European ancestry Alzheimer's disease cases, 207 European ancestry individuals with late mild cognitive impairment, 239 European ancestry individuals with early mild cognitive impairment, 85 European ancestry individuals with significant memory concern, 199 European ancestry controls. NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 4E-27 26.397940008672037 Illumina [563980] N 61 rs429358 19 45422946 rs4420638 2017-08-30 27863252 Astle WJ 2016-11-17 Cell www.ncbi.nlm.nih.gov/pubmed/27863252 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. Plateletcrit 164,339 European ancestry individuals NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.1883 4E-16 15.397940008672037 0.03814463 [0.029-0.047] unit decrease Affymetrix [~ 2500000] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-10-20 28869590 Zhao W 2017-09-04 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28869590 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. Type 2 diabetes 6,353 South Asian ancestry cases, 7,179 South Asian ancestry controls, 3,871 European ancestry cases, 16,427 European ancestry controls, 34,840 cases, 114,981 controls 7,888 South Asian ancestry cases, 20,679 South Asian ancestry controls, 387 European ancestry cases, 2,092 European ancestry controls, 19,998 East Asian ancestry cases, 30,983 East Asian ancestry controls 19q13.32 APOE, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.1978 2E-7 6.698970004336019 (EA) 0.1028 [0.064-0.142] unit decrease Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-10-20 28869590 Zhao W 2017-09-04 Nat Genet www.ncbi.nlm.nih.gov/pubmed/28869590 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. Type 2 diabetes 6,353 South Asian ancestry cases, 7,179 South Asian ancestry controls, 3,871 European ancestry cases, 16,427 European ancestry controls, 34,840 cases, 114,981 controls 7,888 South Asian ancestry cases, 20,679 South Asian ancestry controls, 387 European ancestry cases, 2,092 European ancestry controls, 19,998 East Asian ancestry cases, 30,983 East Asian ancestry controls 19q13.32 APOE, APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.1978 9E-8 7.045757490560675 0.077 [0.05-0.104] unit decrease Affymetrix, Illumina [NR] (imputed) N 61 rs429358 19 45422946 rs4420638 2017-11-01 17463246 Saxena R 2007-04-26 Science www.ncbi.nlm.nih.gov/pubmed/17463246 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. LDL cholesterol levels 2,601 European ancestry type 2 diabetes cases and controls NA 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.22 3E-13 12.522878745280337 2.1 (% variance) increase Affymetrix [389878] N 61 rs429358 19 45422946 rs4420638 2018-07-24 26426971 Winkler TW 2015-10-01 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/26426971 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Body mass index up to 309,889 European ancestry individuals NA 19q13.32 APOC1, ZNF229, IGSF23, BCL3, PVRL2, CLPTM1, GEMIN7, EXOC3L2, KLC3, ZNF180, PVR, CBLC, TOMM40, RELB, PPP1R37, MARK4, ERCC1, CEACAM20, MIR4531, BCAM, APOE, CLASRP, BLOC1S3, CKM, CEACAM22P APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.82 1E-6 6.0 Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 61 rs429358 19 45422946 rs4420638 2018-07-24 26426971 Winkler TW 2015-10-01 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/26426971 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Body mass index (age>50) up to 90,988 European ancestry men, up to 106,622 European ancestry women NA 19q13.32 APOC1, ZNF229, IGSF23, BCL3, PVRL2, CLPTM1, GEMIN7, EXOC3L2, KLC3, ZNF180, PVR, CBLC, TOMM40, RELB, PPP1R37, MARK4, ERCC1, CEACAM20, MIR4531, BCAM, APOE, CLASRP, BLOC1S3, CKM, CEACAM22P APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.82 9E-12 11.045757490560675 0.04 unit increase Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 61 rs429358 19 45422946 rs4420638 2018-07-24 26426971 Winkler TW 2015-10-01 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/26426971 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Body mass index x age interaction up to 112,279 European ancestry individuals aged <50, up to 197,610 European ancestry individuals aged >50 NA 19q13.32 APOC1, ZNF229, IGSF23, BCL3, PVRL2, CLPTM1, GEMIN7, EXOC3L2, KLC3, ZNF180, PVR, CBLC, TOMM40, RELB, PPP1R37, MARK4, ERCC1, CEACAM20, MIR4531, BCAM, APOE, CLASRP, BLOC1S3, CKM, CEACAM22P APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.82 2E-7 6.698970004336019 Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 61 rs429358 19 45422946 rs4420638 2018-07-24 26426971 Winkler TW 2015-10-01 PLoS Genet www.ncbi.nlm.nih.gov/pubmed/26426971 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. Body mass index x sex x age interaction (4df test) up to 51,625 European ancestry men aged <50, up to 60,654 European ancestry women aged <50, up to 90,988 European ancestry men aged >50, up to 106,622 European ancestry women aged >50 NA 19q13.32 APOC1, ZNF229, IGSF23, BCL3, PVRL2, CLPTM1, GEMIN7, EXOC3L2, KLC3, ZNF180, PVR, CBLC, TOMM40, RELB, PPP1R37, MARK4, ERCC1, CEACAM20, MIR4531, BCAM, APOE, CLASRP, BLOC1S3, CKM, CEACAM22P APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.82 2E-10 9.698970004336019 Affymetrix, Illumina, Perlegen [up to 2800000] (imputed) N 61 rs429358 19 45422946 rs4420638 2018-12-06 30319691 Liu C 2018-09-24 Front Genet www.ncbi.nlm.nih.gov/pubmed/30319691 Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. Cerebrospinal fluid AB1-42 levels 235 early mild cognitive impairment cases, 249 late mild cognitive impairment cases, 47 Alzheimer's disease cases, 281 controls. NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 1E-20 20.0 274.6386 [NR] unit increase Illumina [575353] N 61 rs429358 19 45422946 rs4420638 2018-12-06 30319691 Liu C 2018-09-24 Front Genet www.ncbi.nlm.nih.gov/pubmed/30319691 Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. Cerebrospinal fluid p-Tau181p:AB1-42 ratio 235 early mild cognitive impairment cases, 249 late mild cognitive impairment cases, 47 Alzheimer's disease cases, 281 controls. NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 3E-27 26.522878745280337 0.01336468 [NR] unit decrease Illumina [575353] N 61 rs429358 19 45422946 rs4420638 2018-12-06 30319691 Liu C 2018-09-24 Front Genet www.ncbi.nlm.nih.gov/pubmed/30319691 Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. Cerebrospinal fluid t-tau:AB1-42 ratio 235 early mild cognitive impairment cases, 249 late mild cognitive impairment cases, 47 Alzheimer's disease cases, 281 controls. NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 7E-29 28.154901959985743 0.1276141 [NR] unit decrease Illumina [575353] N 61 rs429358 19 45422946 rs4420638 2018-12-06 30319691 Liu C 2018-09-24 Front Genet www.ncbi.nlm.nih.gov/pubmed/30319691 Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. Cognitive impairment test score 235 early mild cognitive impairment cases, 249 late mild cognitive impairment cases, 47 Alzheimer's disease cases, 281 controls. NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 3E-11 10.522878745280337 2.768712 [NR] unit decrease Illumina [575353] N 61 rs429358 19 45422946 rs4420638 2018-12-17 28957414 Pilling LC 2017-09-28 PLoS One www.ncbi.nlm.nih.gov/pubmed/28957414 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. Red cell distribution width 116,666 British ancestry individuals NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 NR 2E-25 24.69897000433602 0.0512579 [0.041-0.061] unit decrease Affymetrix [16832071] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-01-16 30361487 Yan Q 2018-10-25 Mol Psychiatry www.ncbi.nlm.nih.gov/pubmed/30361487 Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Cerebral amyloid deposition (PET imaging) 983 European ancestry individuals NR 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-G rs4420638 0 4420638 intergenic_variant 1 0.25 7E-21 20.154901959985743 0.14 unit increase Illumina [at least 7000000] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.832 2E-48 47.69897000433602 (EA) 0.076 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. High density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 2E-51 50.69897000433602 0.073 unit increase Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.832 2E-156 155.69897000433602 (EA) 0.172 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.883 1E-6 6.0 (Hispanic) 0.115 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.897 2E-6 5.698970004336019 (East Asian) 0.132 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Low density lipoprotein cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 3E-162 161.52287874528034 0.161 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.832 2E-113 112.69897000433602 (EA) 0.143 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.883 5E-6 5.301029995663981 (Hispanic) 0.106 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.897 2E-7 6.698970004336019 (East Asian) 0.143 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Total cholesterol levels 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 3E-120 119.52287874528034 0.136 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.832 2E-32 31.69897000433602 (EA) 0.068 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.897 5E-6 5.301029995663981 (East Asian) 0.115 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-02-14 29507422 Hoffmann TJ 2018-03-05 Nat Genet www.ncbi.nlm.nih.gov/pubmed/29507422 A large electronic-health-record-based genome-wide study of serum lipids. Triglycerides 76,627 European ancestry individuals, 7,795 Hispanic individuals, 6,855 East Asian ancestry individuals, 2,958 African American individuals, 439 South Asian ancestry individuals NA 19q13.32 NR APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 NR 8E-35 34.096910013008056 0.065 unit decrease Affymetrix [at least 7091467] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 2E-24 23.69897000433602 (males) 3.3425252 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 8E-48 47.096910013008056 (females) 3.1868043 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-04-17 30636644 Nazarian A 2019-01-12 Alzheimers Res Ther www.ncbi.nlm.nih.gov/pubmed/30636644 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. Alzheimer's disease 952 European ancestry male cases, 1,789 European ancestry female cases, 6,337 European ancestry male controls, 8,402 European ancestry female controls NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-? rs4420638 0 4420638 intergenic_variant 1 NR 9E-77 76.04575749056067 3.2591338 Affymetrix, Illumina [2928658] (imputed) N 61 rs429358 19 45422946 rs4420638 2019-04-18 30388399 Ligthart S 2018-11-01 Am J Hum Genet www.ncbi.nlm.nih.gov/pubmed/30388399 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. C-reactive protein levels up to 92,771 European ancestry males, up to 113,387 European ancestry females NA 19q13.32 APOC1 APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 340 7115 rs4420638-A rs4420638 0 4420638 intergenic_variant 1 0.18 1E-305 305.0 0.229 [0.22-0.24] unit increase Affymetrix, Illumina, Perlegen [2437193] (imputed) N 61 rs429358 19 45424351 rs814573 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 1745 5710 rs814573-T rs814573 0 814573 intergenic_variant 1 0.198 1E-11 11.0 (C-reactive protein, CRP.4337.49.2) 0.21 [0.15-0.27] unit decrease Affymetrix [10572788] (imputed) N 61 rs429358 19 45424351 rs814573 2018-07-05 29875488 Sun BB 2018-06-06 Nature www.ncbi.nlm.nih.gov/pubmed/29875488 Genomic atlas of the human plasma proteome. Blood protein levels 3,301 European ancestry individuals NA 19q13.32 APOE APOC1 - APOC1P1 ENSG00000130208 ENSG00000214855 1745 5710 rs814573-T rs814573 0 814573 intergenic_variant 1 0.198 5E-15 14.301029995663981 (Apolipoprotein E (isoform E2), APOE.5312.49.3) 0.25 [0.19-0.31] unit increase Affymetrix [10572788] (imputed) N 62 rs1888995 20 25298087 rs7267979 2011-11-18 22001757 Chambers JC 2011-10-16 Nat Genet www.ncbi.nlm.nih.gov/pubmed/22001757 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Liver enzyme levels (alkaline phosphatase) Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals NA 20p11.21 ABHD12, GINS1, PYGB ABHD12 ENSG00000100997 rs7267979-G rs7267979 0 7267979 intron_variant 0 0.57 7E-10 9.154901959985743 1.5 [0.90-2.0] % increase Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) N