,gene,pval,fdr,snp_pos,snp_chr,rsid,DATE ADDED TO CATALOG,PUBMEDID,FIRST AUTHOR,DATE,JOURNAL,LINK,STUDY,DISEASE/TRAIT,INITIAL SAMPLE SIZE,REPLICATION SAMPLE SIZE,REGION,CHR_ID,CHR_POS,REPORTED GENE(S),MAPPED_GENE,UPSTREAM_GENE_ID,DOWNSTREAM_GENE_ID,SNP_GENE_IDS,UPSTREAM_GENE_DISTANCE,DOWNSTREAM_GENE_DISTANCE,STRONGEST SNP-RISK ALLELE,SNPS,MERGED,SNP_ID_CURRENT,CONTEXT,INTERGENIC,RISK ALLELE FREQUENCY,P-VALUE,PVALUE_MLOG,P-VALUE (TEXT),OR or BETA,95% CI (TEXT),PLATFORM [SNPS PASSING QC],CNV
0,SLC44A5,7.36685e-12,3.9938191456e-10,75913826,1,rs1857353,2016-03-24,21116278,Furney SJ,2010-11-30,Mol Psychiatry,www.ncbi.nlm.nih.gov/pubmed/21116278,Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.,Whole-brain volume (Alzheimer's disease interaction),"434 European ancestry mild cognitive impairment cases, 245 European ancestry Alzheimer's disease cases, 284 European ancestry controls",,1p31.1,1,75448141,SLC44A5,SLC44A5,,,204962,,,rs1857353-?,rs1857353,0,1857353.0,intron_variant,0.0,NR,2E-6,5.69897000434,,0.016,[NR] unit decrease,Illumina [478011],N
1,FCER1G,0.000733405,0.00779615128152,161188893,1,rs3557,2017-08-30,27863252,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 platelet volume,"164,454 European ancestry individuals",,1q23.3,1,161219103,FCER1G,FCER1G,,,2207,,,rs3557-G,rs3557,0,3557.0,3_prime_UTR_variant,0.0,0.0911,2e-13,12.6989700043,,0.04672268,[0.034-0.059] unit decrease,Affymetrix [~ 2500000] (imputed),N
2,PDK1,0.00183668,0.0173995098854,173493078,2,rs836589,2015-05-21,22704111,Hotaling JM,2012-06-13,J Urol,www.ncbi.nlm.nih.gov/pubmed/22704111,Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.,Erectile dysfunction in type 1 diabetes,"125 European ancestry cases, 403 European ancestry controls",,2q31.1,2,172628350,PDK1,PDK1,,,5163,,,rs836589-A,rs836589,0,836589,intergenic_variant,0.0,0.186,2e-06,5.69897000434,,,,Illumina [840354],N
3,SCARNA5,4.58829e-14,3.42026790493e-12,234158839,2,rs10210302,2008-06-16,17554300,WTCCC,2007-06-07,Nature,www.ncbi.nlm.nih.gov/pubmed/17554300,"Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.",Crohn's disease,"1,748 European ancestry cases, 2,938 European ancestry controls",(see Parkes 2007),2q37.1,2,233250193,ATG16L1,INPP5D - ATG16L1,3635.0,55054.0,,42290.0,1378.0,rs10210302-T,rs10210302,0,10210302,intron_variant,1.0,0.48,5e-14,13.3010299957,,1.19,[1.01-1.41],Affymetrix [469557],N
4,SPP1,0.00121094,0.0120860383559,88775243,4,rs1471403,2009-10-16,19801982,Rivadeneira F,2009-10-04,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/19801982,Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.,Bone mineral density (spine),"19,195 European ancestry individuals",,4q22.1,4,87854091,MEPE,MEPE - HSP90AB3P,56955.0,3327.0,,7274.0,37657.0,rs1471403-T,rs1471403,0,1471403,intergenic_variant,1.0,0.34,2e-08,7.69897000434,,0.07,[0.05-0.09] s.d. increase,"Affymetrix, Illumina [2543686] (imputed)",N
5,SPP1,0.00121094,0.0120860383559,88775243,4,rs1471403,2009-10-16,19801982,Rivadeneira F,2009-10-04,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/19801982,Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.,Bone mineral density (hip),"19,195 European ancestry individuals",,4q22.1,4,87854091,MEPE,MEPE - HSP90AB3P,56955.0,3327.0,,7274.0,37657.0,rs1471403-T,rs1471403,0,1471403,intergenic_variant,1.0,0.34,8e-07,6.09691001301,,0.06,[0.04-0.08] s.d. increase,"Affymetrix, Illumina [2543686] (imputed)",N
6,PPID,2.45851e-16,2.61808175873e-14,159629151,4,rs4690909,2014-12-10,24816252,Shin SY,2014-05-11,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/24816252,An atlas of genetic influences on human blood metabolites.,Blood metabolite ratios,"Up to 5,591 European ancestry individuals","Up to 1,767 European ancestry individuals",4q32.1,4,158707999,ETFDH,ETFDH,,,2110,,,rs4690909-C,rs4690909,0,4690909.0,intron_variant,0.0,0.69,2E-57,56.6989700043,(octanoylcarnitine/X-13435),0.056,[0.048-0.064] unit increase,"Affymetrix, Illumina [2100000] (imputed)",N
7,MFAP3L,1.73748e-12,1.02588266907e-10,170935245,4,rs4692589,2015-07-08,25390645,Otowa T,2014-11-12,PLoS One,www.ncbi.nlm.nih.gov/pubmed/25390645,Genome-wide and gene-based association studies of anxiety disorders in European and african american samples.,Anxiety disorder,"324 African American cases, 273 African American controls, 757 European ancestry cases, 940 European ancestry controls",,4q33,4,170014094,MFAP3L,MFAP3L,,,9848,,,rs4692589-C,rs4692589,0,4692589.0,intron_variant,0.0,,9E-7,6.04575749056,"(EA, factor score analysis)",0.067,[NR] unit decrease,Affymetrix [up to 730090],N
8,ALDH7A1,8.85459e-07,1.98511683564e-05,125918148,5,rs13182402,2010-01-28,20072603,Guo Y,2010-01-08,PLoS Genet,www.ncbi.nlm.nih.gov/pubmed/20072603,Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.,Osteoporosis,"350 Han Chinese ancestry cases, 350 Han Chinese ancestry controls","390 Han Chinese ancestry cases, 516 Han Chinese ancestry controls",5q23.2,5,126582456,ALDH7A1,ALDH7A1,,,501,,,rs13182402-G,rs13182402,0,13182402,intron_variant,0.0,0.05,2e-09,8.69897000434,,2.25,[1.72-2.94],Affymetrix [281533],N
9,ZNF300P1,7.7055e-10,3.1309328248e-08,150277909,5,rs11741861,2013-02-12,23128233,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.,Inflammatory bowel disease,"12,924 European ancestry cases, 21,442 European ancestry controls","25,683 European ancestry cases, 17,015 European ancestry controls",5q33.1,5,150898347,"TNIP1, IRGM, ZNF300P1","IRGM, ZNF300",,,"345611, 91975",,,rs11741861-G,rs11741861,0,11741861.0,intron_variant,0.0,0.093,3E-37,36.5228787453,,1.249,[1.186-1.314],"Affymetrix, Illumina [1230000] (imputed)",N
10,ZNF300P1,7.7055e-10,3.1309328248e-08,150277909,5,rs11741861,2016-07-24,26192919,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",5q33.1,5,150898347,NR,"IRGM, ZNF300",,,"345611, 91975",,,rs11741861-G,rs11741861,0,11741861.0,intron_variant,0.0,0.07656,7E-8,7.15490195999,(EA),1.128044,[1.08-1.17],"Affymetrix, Illumina [~ 9000000] (imputed)",N
11,ZNF300P1,7.7055e-10,3.1309328248e-08,150277909,5,rs11741861,2016-07-24,26192919,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.,Crohn's disease,"5,956 European ancestry cases, 14,927 European ancestry controls","14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls",5q33.1,5,150898347,NR,"IRGM, ZNF300",,,"345611, 91975",,,rs11741861-G,rs11741861,0,11741861.0,intron_variant,0.0,0.07656,6E-44,43.2218487496,(EA),1.3292114,[1.29-1.37],"Affymetrix, Illumina [~ 9000000] (imputed)",N
12,ZNF300P1,7.7055e-10,3.1309328248e-08,150277909,5,rs11741861,2017-06-02,28067908,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",,5q33.1,5,150898347,"RPS14, TCOF1, CD74, NDST1, SYNPO, MYOZ3, DCTN4, SMIM3, AC010441.1, IRGM, ZNF300, GPX3, ANXA6, SLC36A3, SLC36A2, RBM22, TNIP1, CCDC69, GM2A","IRGM, ZNF300",,,"345611, 91975",,,rs11741861-?,rs11741861,0,11741861.0,intron_variant,0.0,,3e-15,14.5228787453,,,,Illumina [9725440] (imputed),N
13,ZNF300P1,7.7055e-10,3.1309328248e-08,150277909,5,rs11741861,2017-06-02,28067908,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.,Crohn's disease,"12,194 European and unknown ancestry cases, 28,072 European and unknown ancestry controls",,5q33.1,5,150898347,"RPS14, TCOF1, CD74, NDST1, SYNPO, MYOZ3, DCTN4, SMIM3, AC010441.1, IRGM, ZNF300, GPX3, ANXA6, SLC36A3, SLC36A2, RBM22, TNIP1, CCDC69, GM2A","IRGM, ZNF300",,,"345611, 91975",,,rs11741861-?,rs11741861,0,11741861.0,intron_variant,0.0,,2e-19,18.6989700043,,,,Illumina [9560910] (imputed),N
14,ABCF1,0.00280261,0.0248894845664,30571471,6,rs1264423,2017-08-30,27863252,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",,6p21.33,6,30603694,PPP1R10,PPP1R10,,,5514,,,rs1264423-C,rs1264423,0,1264423.0,non_coding_transcript_exon_variant,0.0,0.5121,6e-16,15.2218487496,,0.02836222,[0.021-0.035] unit decrease,Affymetrix [~ 2500000] (imputed),N
15,CSNK2B,0.000185497,0.00236116614576,31622606,6,rs805297,2011-09-17,21844665,Hu HJ,2011-08-16,Exp Mol Med,www.ncbi.nlm.nih.gov/pubmed/21844665,Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis.,Rheumatoid arthritis,"100 Korean ancestry cases, 600 Korean ancestry controls","578 Korean ancestry cases, 711 Korean ancestry controls",6p21.33,6,31654829,APOM,"BAG6, APOM",,,"7917, 55937",,,rs805297-A,rs805297,0,805297,intron_variant,0.0,0.36,3e-10,9.52287874528,,1.56,[1.36-1.80],Affymetrix [300909],N
16,HLA-DRB5,8.16435e-30,7.49044311822e-27,32574060,6,rs9270986,2016-01-14,25643325,Renton AE,2015-04-01,JAMA Neurol,www.ncbi.nlm.nih.gov/pubmed/25643325,A Genome-wide Association Study of Myasthenia Gravis.,Myasthenia gravis,"972 European ancestry cases, 1,977 European ancestry controls","423 European ancestry cases, 467 European ancestry controls",6p21.32,6,32606283,"HLA-DRB1, HLA-DQA1",HLA-DRB1 - LOC107986589,3123.0,107986589.0,,16447.0,30905.0,rs9270986-A,rs9270986,0,9270986.0,intron_variant,1.0,0.15,6E-8,7.22184874962,,1.43,[NR],Illumina [8114394] (imputed),N
17,HLA-DQA1,1.74521e-13,1.21725293607e-11,32604372,6,rs9272346,2008-06-16,17554300,WTCCC,2007-06-07,Nature,www.ncbi.nlm.nih.gov/pubmed/17554300,"Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.",Type 1 diabetes,"1,963 European ancestry cases, 2,938 European ancestry controls",(see Todd 2007),6p21.32,6,32636595,MHC,HLA-DRB1 - LOC107986589,3123.0,107986589.0,,46759.0,593.0,rs9272346-G,rs9272346,0,9272346,intron_variant,1.0,0.61,4.999999999999999e-134,133.301029996,,5.49,[4.83-6.24],Affymetrix [469557],N
18,HLA-DQA1,1.74521e-13,1.21725293607e-11,32604372,6,rs9272346,2008-11-26,18978792,Cooper JD,2008-11-02,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/18978792,Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.,Type 1 diabetes,"3,561 European ancestry cases, 4,646 European ancestry controls","6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families",6p21.32,6,32636595,HLA,HLA-DRB1 - LOC107986589,3123.0,107986589.0,,46759.0,593.0,rs9272346-G,rs9272346,0,9272346,intron_variant,1.0,NR,5.999999999999998e-129,128.22184875,,,,Affymetrix [up to 335565],N
19,HLA-DQA1,1.74521e-13,1.21725293607e-11,32604372,6,rs9272346,2013-03-05,23181788,Lasky-Su J,2012-12-04,Clin Exp Allergy,www.ncbi.nlm.nih.gov/pubmed/23181788,HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.,Asthma,"Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls","Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents",6p21.32,6,32636595,HLA-DQA1,HLA-DRB1 - LOC107986589,3123.0,107986589.0,,46759.0,593.0,rs9272346-?,rs9272346,0,9272346.0,intron_variant,1.0,NR,2E-8,7.69897000434,(Adult),,,Affymetrix [455089],N
20,HLA-DQB1,2.79228e-22,6.53007302388e-20,32604372,6,rs9272346,2008-06-16,17554300,WTCCC,2007-06-07,Nature,www.ncbi.nlm.nih.gov/pubmed/17554300,"Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.",Type 1 diabetes,"1,963 European ancestry cases, 2,938 European ancestry controls",(see Todd 2007),6p21.32,6,32636595,MHC,HLA-DRB1 - LOC107986589,3123.0,107986589.0,,46759.0,593.0,rs9272346-G,rs9272346,0,9272346,intron_variant,1.0,0.61,4.999999999999999e-134,133.301029996,,5.49,[4.83-6.24],Affymetrix [469557],N
21,HLA-DQB1,2.79228e-22,6.53007302388e-20,32604372,6,rs9272346,2008-11-26,18978792,Cooper JD,2008-11-02,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/18978792,Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.,Type 1 diabetes,"3,561 European ancestry cases, 4,646 European ancestry controls","6,225 European ancestry cases, 6,946 European ancestry controls, 3,064 European ancestry trios from 2,828 families",6p21.32,6,32636595,HLA,HLA-DRB1 - LOC107986589,3123.0,107986589.0,,46759.0,593.0,rs9272346-G,rs9272346,0,9272346,intron_variant,1.0,NR,5.999999999999998e-129,128.22184875,,,,Affymetrix [up to 335565],N
22,HLA-DQB1,2.79228e-22,6.53007302388e-20,32604372,6,rs9272346,2013-03-05,23181788,Lasky-Su J,2012-12-04,Clin Exp Allergy,www.ncbi.nlm.nih.gov/pubmed/23181788,HLA-DQ strikes again: genome-wide association study further confirms HLA-DQ in the diagnosis of asthma among adults.,Asthma,"Up to 1,238 European ancestry cases, up to 2,617 European ancestry controls","Up to 1,837 European ancestry cases, up to 3,803 European ancestry controls, up to 2,806 cases, up to 2,150 controls, up to 603 Costa Rican ancestry cases and their parents",6p21.32,6,32636595,HLA-DQA1,HLA-DRB1 - LOC107986589,3123.0,107986589.0,,46759.0,593.0,rs9272346-?,rs9272346,0,9272346.0,intron_variant,1.0,NR,2E-8,7.69897000434,(Adult),,,Affymetrix [455089],N
23,HLA-DPA1,8.03941e-19,1.15524828819e-16,33033022,6,rs3077,2012-08-10,22737229,Nishida N,2012-06-21,PLoS One,www.ncbi.nlm.nih.gov/pubmed/22737229,Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.,Hepatitis B (viral clearance),"181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals","Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals",6p21.32,6,33065245,HLA-DPA1,HLA-DPA1,,,3113,,,rs3077-C,rs3077,0,3077,3_prime_UTR_variant,0.0,0.60,4e-45,44.3979400087,(Protective effects against CHB),1.82,[1.67-1.96],Affymetrix [597789],N
24,HLA-DPA1,8.03941e-19,1.15524828819e-16,33033022,6,rs3077,2011-08-05,21750111,Mbarek H,2011-07-12,Hum Mol Genet,www.ncbi.nlm.nih.gov/pubmed/21750111,A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.,Hepatitis B,"458 Japanese ancestry cases, 2,056 Japanese ancestry controls","2,209 Japanese ancestry cases, 4,440 Japanese ancestry controls",6p21.32,6,33065245,HLA-DPA1,HLA-DPA1,,,3113,,,rs3077-G,rs3077,0,3077,3_prime_UTR_variant,0.0,0.60,2e-61,60.6989700043,,1.87,[1.73-2.01],Illumina [423627],N
25,HLA-DPA1,8.03941e-19,1.15524828819e-16,33033022,6,rs3077,2012-08-10,22737229,Nishida N,2012-06-21,PLoS One,www.ncbi.nlm.nih.gov/pubmed/22737229,Genome-wide association study confirming association of HLA-DP with protection against chronic hepatitis B and viral clearance in Japanese and Korean.,Hepatitis B (viral clearance),"181 East Asian ancestry HBV carriers, 184 East Asian ancestry controls, 185 East Asian ancestry spontaneously HBV-resolved individuals","Up to 8,045 East Asian ancestry HBV carriers, up to 9,003 East Asian ancestry controls, up to 3,995 East Asian ancestry spontaneously HBV-resolved individuals",6p21.32,6,33065245,HLA-DPA1,HLA-DPA1,,,3113,,,rs3077-C,rs3077,0,3077,3_prime_UTR_variant,0.0,0.60,1e-09,9.0,(Clearance of HBV),1.67,[1.43-2.0],Affymetrix [597789],N
26,HLA-DPA1,8.03941e-19,1.15524828819e-16,33033022,6,rs3077,2013-12-11,23760081,Kim YJ,2013-06-10,Hum Mol Genet,www.ncbi.nlm.nih.gov/pubmed/23760081,A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.,Chronic hepatitis B infection,"400 Korean ancestry cases, 1,000 Korean ancestry controls","971 Korean ancestry cases, 1,938 Korean ancestry controls",6p21.32,6,33065245,HLA-DP,HLA-DPA1,,,3113,,,rs3077-?,rs3077,0,3077,3_prime_UTR_variant,0.0,NR,5e-39,38.3010299957,,1.89,[1.69-2.08],Illumina [719265],N
27,HLA-DPA1,8.03941e-19,1.15524828819e-16,33033022,6,rs3077,2015-12-03,25802187,Jiang DK,2015-04-28,Hepatology,www.ncbi.nlm.nih.gov/pubmed/25802187,Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.,Chronic hepatitis B infection,"2,514 Chinese ancestry cases, 1,130 Chinese ancestry controls","6,600 Chinese ancestry cases, 8,127 Chinese ancestry controls",6p21.32,6,33065245,HLA-DPA1,HLA-DPA1,,,3113,,,rs3077-A,rs3077,0,3077.0,3_prime_UTR_variant,0.0,0.66,1E-53,53.0,,1.45,[1.39-1.52],Illumina [3680900] (imputed),N
28,CPNE5,1.01592e-06,2.23970847526e-05,36820565,6,rs236349,2017-03-27,27798624,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",6p21.2,6,36852789,PPIL1,C6orf89,,,221477,,,rs236349-G,rs236349,0,236349.0,downstream_gene_variant,0.0,0.34,1E-15,15.0,,0.2812,[0.21-0.35] unit increase,Affymetrix [19941912] (imputed),N
29,CPNE5,1.01592e-06,2.23970847526e-05,36820565,6,rs236349,2017-09-15,28613276,Nolte IM,2017-06-14,Nat Commun,www.ncbi.nlm.nih.gov/pubmed/28613276,Genetic loci associated with heart rate variability and their effects on cardiac disease risk.,Heart rate variability traits (SDNN),"27,850 European ancestry individuals","24,125 European ancestry individuals, 11,234 Hispanic/Latino individuals, 6,899 African American individuals",6p21.2,6,36852789.0,PPIL1,C6orf89,,,221477,,,rs236349-G,rs236349,0,236349.0,downstream_gene_variant,0.0,0.651,4e-25,24.3979400087,(EA),0.033,[0.027-0.039] unit decrease,"Affymetrix, Illumina, Perlegen [at least 2135543] (imputed)",N
30,CPNE5,1.01592e-06,2.23970847526e-05,36820565,6,rs236349,2017-09-15,28613276,Nolte IM,2017-06-14,Nat Commun,www.ncbi.nlm.nih.gov/pubmed/28613276,Genetic loci associated with heart rate variability and their effects on cardiac disease risk.,Heart rate variability traits (SDNN),"27,850 European ancestry individuals","24,125 European ancestry individuals, 11,234 Hispanic/Latino individuals, 6,899 African American individuals",6p21.2,6,36852789.0,PPIL1,C6orf89,,,221477,,,rs236349-G,rs236349,0,236349.0,downstream_gene_variant,0.0,0.651,2e-28,27.6989700043,,0.033,[0.027-0.039] unit decrease (EA),"Affymetrix, Illumina, Perlegen [at least 2135543] (imputed)",N
31,CPNE5,1.01592e-06,2.23970847526e-05,36820565,6,rs236349,2017-09-15,28613276,Nolte IM,2017-06-14,Nat Commun,www.ncbi.nlm.nih.gov/pubmed/28613276,Genetic loci associated with heart rate variability and their effects on cardiac disease risk.,Heart rate variability traits (RMSSD),"26,523 European ancestry individuals","20,429 European ancestry individuals, 11,234 Hispanic/Latino individuals, 6,895 African American individuals",6p21.2,6,36852789.0,PPIL1,C6orf89,,,221477,,,rs236349-G,rs236349,0,236349.0,downstream_gene_variant,0.0,0.654958,9.000000000000001e-17,16.0457574906,(EA),0.035488,[0.027-0.044] unit decrease,"Affymetrix, Illumina, Perlegen [at least 2135543] (imputed)",N
32,CPNE5,1.01592e-06,2.23970847526e-05,36820565,6,rs236349,2017-09-15,28613276,Nolte IM,2017-06-14,Nat Commun,www.ncbi.nlm.nih.gov/pubmed/28613276,Genetic loci associated with heart rate variability and their effects on cardiac disease risk.,Heart rate variability traits (RMSSD),"26,523 European ancestry individuals","20,429 European ancestry individuals, 11,234 Hispanic/Latino individuals, 6,895 African American individuals",6p21.2,6,36852789.0,PPIL1,C6orf89,,,221477,,,rs236349-G,rs236349,0,236349.0,downstream_gene_variant,0.0,0.654958,5.999999999999999e-20,19.2218487496,,0.035488,[0.027-0.044] unit decrease (EA),"Affymetrix, Illumina, Perlegen [at least 2135543] (imputed)",N
33,CPNE5,1.01592e-06,2.23970847526e-05,36820565,6,rs236349,2017-09-15,28613276,Nolte IM,2017-06-14,Nat Commun,www.ncbi.nlm.nih.gov/pubmed/28613276,Genetic loci associated with heart rate variability and their effects on cardiac disease risk.,Heart rate variability traits (pvRSA/HF),"24,088 European ancestry individuals","9,377 European ancestry individuals, 404 Hispanic/Latino individuals, 1,901 African American individuals",6p21.2,6,36852789.0,PPIL1,C6orf89,,,221477,,,rs236349-G,rs236349,0,236349.0,downstream_gene_variant,0.0,0.6445000000000001,5e-15,14.3010299957,,0.068785,[0.051-0.087] unit decrease (EA),"Affymetrix, Illumina, Perlegen [at least 2135543] (imputed)",N
34,CPNE5,1.01592e-06,2.23970847526e-05,36820565,6,rs236349,2017-09-15,28613276,Nolte IM,2017-06-14,Nat Commun,www.ncbi.nlm.nih.gov/pubmed/28613276,Genetic loci associated with heart rate variability and their effects on cardiac disease risk.,Heart rate variability traits (pvRSA/HF),"24,088 European ancestry individuals","9,377 European ancestry individuals, 404 Hispanic/Latino individuals, 1,901 African American individuals",6p21.2,6,36852789.0,PPIL1,C6orf89,,,221477,,,rs236349-G,rs236349,0,236349.0,downstream_gene_variant,0.0,0.6445000000000001,3e-15,14.5228787453,(EA),0.068785,[0.051-0.087] unit decrease,"Affymetrix, Illumina, Perlegen [at least 2135543] (imputed)",N
35,TDRD6,9.81607e-10,3.9155764406e-08,46644875,6,rs2270450,2015-07-27,25429627,Oryoji D,2014-11-27,J Clin Endocrinol Metab,www.ncbi.nlm.nih.gov/pubmed/25429627,Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' disease.,Hashimoto thyroiditis versus Graves' disease,"263 Japanese ancestry Hashimoto thyroiditis cases, 260 Japanese ancestry Graves’ disease cases","181 Japanese ancestry Hashimoto thyroiditis cases, 286 Japanese ancestry Graves’ disease cases",6p12.3,6,46677138,SLC25A27,"LOC101926934, SLC25A27",,,"101926934, 9481",,,rs2270450-T,rs2270450,0,2270450.0,3_prime_UTR_variant,0.0,0.178,1E-6,6.0,,1.75,[1.40-2.19],Illumina [546173],N
36,TCF21,1.41386e-08,4.53307303542e-07,134214525,6,rs12190287,2011-04-11,21378990,Schunkert H,2011-03-06,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/21378990,Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.,Coronary heart disease,"22,233 European ancestry cases, 64,762 European ancestry controls","56,682 European ancestry cases and controls",6q23.2,6,133893387,TCF21,TCF21,,,6943,,,rs12190287-C,rs12190287,0,12190287,3_prime_UTR_variant,0.0,0.62,1e-12,12.0,,1.08,[1.06-1.10],"Affymetrix, Illumina [~ 2300000] (imputed)",N
37,TCF21,1.41386e-08,4.53307303542e-07,134214525,6,rs12190287,2014-07-23,24262325,Dichgans M,2013-11-21,Stroke,www.ncbi.nlm.nih.gov/pubmed/24262325,Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.,Coronary artery disease or ischemic stroke,"12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls",,6q23.2,6,133893387,TCF21,TCF21,,,6943,,,rs12190287-?,rs12190287,0,12190287,3_prime_UTR_variant,0.0,,2e-08,7.69897000434,,,,"Affymetrix, Illumina [up to 2500000] (imputed)",N
38,TCF21,1.41386e-08,4.53307303542e-07,134214525,6,rs12190287,2014-07-23,24262325,Dichgans M,2013-11-21,Stroke,www.ncbi.nlm.nih.gov/pubmed/24262325,Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.,Coronary artery disease or large artery stroke,"2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls",,6q23.2,6,133893387,TCF21,TCF21,,,6943,,,rs12190287-?,rs12190287,0,12190287,3_prime_UTR_variant,0.0,,2e-08,7.69897000434,,,,"Affymetrix, Illumina [up to 2500000] (imputed)",N
39,TCF21,1.41386e-08,4.53307303542e-07,134214525,6,rs12190287,2014-07-23,24262325,Dichgans M,2013-11-21,Stroke,www.ncbi.nlm.nih.gov/pubmed/24262325,Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.,Coronary artery disease,"33,398 cases, 75,726 controls",,6q23.2,6,133893387,TCF21,TCF21,,,6943,,,rs12190287-?,rs12190287,0,12190287.0,3_prime_UTR_variant,0.0,NR,2e-09,8.69897000434,,1.1111,[1.08-1.15],Illumina [575000] (imputed),N
40,MTSS1,1.09742e-17,1.36342384789e-15,125857359,8,rs12541595,2017-09-05,28394258,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 diastolic internal dimension,"30,201 European ancestry individuals","14,002 European ancestry individuals",8q24.13,8,124845117,MTSS1,LOC105375743,,,105375743,,,rs12541595-T,rs12541595,0,12541595.0,intron_variant,0.0,0.3,2e-13,12.6989700043,,0.023,[0.017-0.029] cm decrease,"Affymetrix, Illumina [at least 283291] (imputed)",N
41,GPAA1,4.09632e-05,0.000630407573133,145139522,8,rs6558295,2012-02-24,21886157,Suhre K,2011-08-31,Nature,www.ncbi.nlm.nih.gov/pubmed/21886157,Human metabolic individuality in biomedical and pharmaceutical research.,Metabolic traits,"2,820 European ancestry individuals",,8q24.3,8,144084619,OPLAH,GPAA1,,,8733,,,rs6558295-G,rs6558295,0,6558295,intron_variant,0.0,0.083,2e-59,58.6989700043,(5-oxoproline),0.121,[NR] unit decrease,"Affymetrix, Illumina [534665]",N
42,PDCD1LG2,1.20439e-07,3.27961057986e-06,5510644,9,rs16923189,2017-07-18,28240269,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",9p24.1,9,5510644.0,PDCD1LG2,"PDCD1LG2, LOC107987045",,,"80380, 107987045",,,rs16923189-G,rs16923189,0,16923189.0,5_prime_UTR_variant,0.0,0.2801205,2e-26,25.6989700043,(Programmed cell death 1 ligand 2),0.5243,[0.43-0.62] unit increase,Affymetrix [509946],N
43,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2008-12-01,18940312,Yuan X,2008-10-10,Am J Hum Genet,www.ncbi.nlm.nih.gov/pubmed/18940312,Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.,Liver enzyme levels,"7,751 European ancestry individuals","1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals",,,,ABO,,,,,,,rs657152-T,rs657152,0,657152,,1.0,0.39,2e-30,29.6989700043,(ALP),0.05,[0.039-0.055] U/L decrease,"Affymetrix, Illumina [up to 496032]",N
44,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2010-07-01,20529992,Teupser D,2010-06-07,Circ Cardiovasc Genet,www.ncbi.nlm.nih.gov/pubmed/20529992,Genetic regulation of serum phytosterol levels and risk of coronary artery disease.,Phytosterol levels,"1,495 European ancestry individuals","2,917 European ancestry individuals",,,,ABO,,,,,,,rs657152-T,rs657152,0,657152,,1.0,0.383,9.000000000000001e-13,12.0457574906,(campesterol),8.0,[NR] % increase,Affymetrix [374370],N
45,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2013-05-14,23408906,Porcu E,2013-02-07,PLoS Genet,www.ncbi.nlm.nih.gov/pubmed/23408906,A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.,Thyroid hormone levels,"up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males",,,,,ABO,,,,,,,rs657152-A,rs657152,0,657152,,1.0,0.343,4e-10,9.39794000867,(TSH),0.058,[0.04-0.076] unit increase,"Affymetrix, Illumina [~ 2500000] (imputed)",N
46,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2013-05-14,23408906,Porcu E,2013-02-07,PLoS Genet,www.ncbi.nlm.nih.gov/pubmed/23408906,A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.,Thyroid hormone levels,"up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males",,,,,ABO,,,,,,,rs657152-A,rs657152,0,657152,,1.0,0.343,1e-06,6.0,(TSH - Males),0.067,[0.04-0.094] unit increase,"Affymetrix, Illumina [~ 2500000] (imputed)",N
47,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2014-05-01,24094242,Li J,2013-10-05,BMC Genomics,www.ncbi.nlm.nih.gov/pubmed/24094242,Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.,Serum alkaline phosphatase levels,"1,452 Han Chinese ancestry individuals","8,830 Han Chinese ancestry individuals",,,,ABO,,,,,,,rs657152-T,rs657152,0,657152,,1.0,0.46,4e-08,7.39794000867,,0.062,[NR] U/L decrease,Affymetrix [658288],N
48,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2014-10-28,24586186,Rueedi R,2014-02-20,PLoS Genet,www.ncbi.nlm.nih.gov/pubmed/24586186,Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.,Urinary metabolites (H-NMR features),835 European ancestry individuals,601 Brazilian individuals,,,,ABO,,,,,,,rs657152-C,rs657152,0,657152,,1.0,0.39,1e-19,19.0,"(1.2975, Unknown)",0.34,[NR] unit increase,Illumina [713870] (imputed),N
49,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2013-04-09,23251661,Comuzzie AG,2012-12-04,PLoS One,www.ncbi.nlm.nih.gov/pubmed/23251661,Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.,Obesity-related traits,815 Hispanic children from 263 families,,,,,ABO,,,,,,,rs657152-A,rs657152,0,657152.0,,1.0,0.254,2E-8,7.69897000434,(IL6 ),0.04,[NR] pg/mL increase,Illumina [899892],N
50,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2015-07-24,25436638,Malinowski JR,2014-12-01,PLoS One,www.ncbi.nlm.nih.gov/pubmed/25436638,Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.,Serum thyroid-stimulating hormone levels,"4,501 European ancestry individuals, 351 African American individuals",,,,,ABO,,,,,,,rs657152-T,rs657152,0,657152.0,,1.0,0.38,4E-6,5.39794000867,(EA),0.05,[0.03-0.07] unit increase,Illumina [up to 905285],N
51,ABO,7.85816e-08,2.21569382932e-06,136139265,9,rs657152,2017-07-24,21829393,Plagnol V,2011-08-04,PLoS Genet,www.ncbi.nlm.nih.gov/pubmed/21829393,Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.,Gastric parietal cell autoantibody levels in type 1 diabetes,"4,328 European ancestry cases",,,,,ABO,,,,,,,rs657152-G,rs657152,0,657152.0,,1.0,,1e-13,13.0,,2.94,[2.13-4.00],"Affymetrix, Illumina [NR]",N
52,ADK,2.20768e-14,1.74376687845e-12,75952670,10,rs12220238,2016-06-28,26293465,Durda P,2015-08-20,Arterioscler Thromb Vasc Biol,www.ncbi.nlm.nih.gov/pubmed/26293465,Plasma Levels of Soluble Interleukin-2 Receptor α: Associations With Clinical Cardiovascular Events and Genome-Wide Association Scan.,Soluble interleukin-2 receptor subunit alpha,"2,964 European ancestry individuals, 683 African American individuals","4,464 European ancestry individuals",10q22.2,10,74192912,ADK,ADK,,,132,,,rs12220238-?,rs12220238,0,12220238.0,intron_variant,0.0,,8E-6,5.09691001301,(AA),,,Illumina [2200000] (imputed),N
53,KCNMA1,0.0052878,0.0418495715902,79253261,10,rs3127447,2015-05-08,25201988,Rietveld CA,2014-09-08,Proc Natl Acad Sci U S A,www.ncbi.nlm.nih.gov/pubmed/25201988,Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.,Educational attainment,"106,736 European ancestry individuals",,10q22.3,10,77493503,KCNMA1,KCNMA1,,,3778,,,rs3127447-A,rs3127447,0,3127447.0,intron_variant,0.0,0.529,6E-6,5.22184874962,,0.02,[NR] unit increase,"Affymetrix, Illumina [NR] (imputed)",N
54,CRTAC1,1.21588e-05,0.000211395553176,99637578,10,rs531676,2010-09-13,20694148,Zabaneh D,2010-08-04,PLoS One,www.ncbi.nlm.nih.gov/pubmed/20694148,A genome-wide association study of the metabolic syndrome in Indian Asian men.,Metabolic syndrome,"2,554 Indian Asian ancestry individuals","2,240 Indian Asian ancestry individuals",10q24.2,10,97877821,CRTAC1,CRTAC1,,,55118,,,rs531676-?,rs531676,0,531676,intron_variant,0.0,0.45,9e-06,5.04575749056,(T2D),,,Illumina [308011],N
55,ECHS1,0.00515053,0.0409602331332,135184421,10,rs7894051,2016-02-04,25918517,Yashin AI,2015-04-13,Front Genet,www.ncbi.nlm.nih.gov/pubmed/25918517,"Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.",Lifespan,679 female individuals,432 male individuals,10q26.3,10,133370917,ECHS1,ECHS1,,,1892,,,rs7894051-?,rs7894051,0,7894051.0,intron_variant,0.0,0.203,3E-10,9.52287874528,(females),3.525,[NR] unit decrease,Affymetrix [429783],N
56,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2008-12-11,19043545,Gieger C,2008-11-28,PLoS Genet,www.ncbi.nlm.nih.gov/pubmed/19043545,Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.,Metabolite levels,284 European ancestry male individuals,,11q12.2,11,61803876,FADS1,FADS1,,,3992,,,rs174548-?,rs174548,0,174548,5_prime_UTR_variant,0.0,0.28,5e-08,7.30102999566,(PC),,,Affymetrix [187454],N
57,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2010-10-17,20864672,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.,HDL cholesterol,"up to 17,723 European ancestry individuals","up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals",11q12.2,11,61803876,FADS1,FADS1,,,3992,,,rs174548-G,rs174548,0,174548,5_prime_UTR_variant,0.0,0.17,1e-12,12.0,,0.01,[0.007-0.015] unit decrease,"Affymetrix, Illumina, Perlegen [2155369] (imputed)",N
58,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2010-10-17,20864672,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.,Triglycerides,"up to 17,723 European ancestry individuals","up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals",11q12.2,11,61803876,FADS1,FADS1,,,3992,,,rs174548-G,rs174548,0,174548,5_prime_UTR_variant,0.0,0.17,5e-14,13.3010299957,,0.03,[0.02-0.04] unit increase,"Affymetrix, Illumina, Perlegen [2155369] (imputed)",N
59,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2014-12-10,24816252,Shin SY,2014-05-11,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/24816252,An atlas of genetic influences on human blood metabolites.,Blood metabolite levels,"7,824 European ancestry individuals",,11q12.2,11,61803876,FADS1,FADS1,,,3992,,,rs174548-C,rs174548,0,174548,5_prime_UTR_variant,0.0,0.7,9.999999999999999e-85,84.0,(arachidonate (20:4n6)),0.049,[0.043-0.055] unit increase,"Affymetrix, Illumina [2100000] (imputed)",N
60,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2013-03-22,23303382,Hong KW,2013-01-10,J Hum Genet,www.ncbi.nlm.nih.gov/pubmed/23303382,Genome-wide association study of serum albumin:globulin ratio in Korean populations.,Hematology traits,"4,637 East Asian ancestry individuals","4,205 East Asian ancestry individuals",11q12.2,11,61803876,FADS1,FADS1,,,3992,,,rs174548-G,rs174548,0,174548.0,5_prime_UTR_variant,0.0,0.319,4E-8,7.39794000867,(ALB/GLB),0.017,[0.011-0.023] unit increase,Affymetrix [290659],N
61,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2014-12-10,24816252,Shin SY,2014-05-11,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/24816252,An atlas of genetic influences on human blood metabolites.,Blood metabolite ratios,"Up to 5,591 European ancestry individuals","Up to 1,767 European ancestry individuals",11q12.2,11,61803876,FADS1,FADS1,,,3992,,,rs174548-C,rs174548,0,174548.0,5_prime_UTR_variant,0.0,0.7,2E-361,360.698970004,(arachidonate (20:4n6)/dihomo-linolenate (20:3n3 or n6)),0.071,[0.067-0.075] unit increase,"Affymetrix, Illumina [2100000] (imputed)",N
62,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2015-08-09,25646338,Mozaffarian D,2014-12-10,Am J Clin Nutr,www.ncbi.nlm.nih.gov/pubmed/25646338,Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.,Trans fatty acid levels,"8,013 European ancestry individuals","1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals",11q12.2,11,61803876,NR,FADS1,,,3992,,,rs174548-C,rs174548,0,174548.0,5_prime_UTR_variant,0.0,0.7049,5E-15,14.3010299957,"(Cis/trans-18:2, EA)",0.0035,[0.0027-0.0043] unit decrease,"Affymetrix, Illumina [~ 2500000] (imputed)",N
63,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2016-10-12,26584805,Dorajoo R,2015-11-19,Genes Nutr,www.ncbi.nlm.nih.gov/pubmed/26584805,A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population.,Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid),"717 Singaporean Chinese ancestry myocardial infarction cases, 644 Singaporean Chinese ancestry controls",,11q12.2,11,61803876,NR,FADS1,,,3992,,,rs174548-G,rs174548,0,174548.0,5_prime_UTR_variant,0.0,0.6491,7E-31,30.15490196,,0.1789,[0.15-0.21] unit decrease,Illumina [up to 1980188] (imputed),N
64,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2016-10-12,26584805,Dorajoo R,2015-11-19,Genes Nutr,www.ncbi.nlm.nih.gov/pubmed/26584805,A genome-wide association study of n-3 and n-6 plasma fatty acids in a Singaporean Chinese population.,Delta-6 desaturase activity,"717 Singaporean Chinese ancestry myocardial infarction cases, 644 Singaporean Chinese ancestry controls",,11q12.2,11,61803876,NR,FADS1,,,3992,,,rs174548-G,rs174548,0,174548.0,5_prime_UTR_variant,0.0,0.6413,2E-38,37.6989700043,,0.2384,[0.20-0.27] unit decrease,Illumina [up to 1980188] (imputed),N
65,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2017-08-30,27863252,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",,11q12.2,11,61803876.0,FADS1,FADS1,,,3992,,,rs174548-G,rs174548,0,174548.0,5_prime_UTR_variant,0.0,0.3139,4.0000000000000004e-11,10.3979400087,,0.02530355,[0.018-0.033] unit decrease,Affymetrix [~ 2500000] (imputed),N
66,FADS2,0.000590277,0.00648269045026,61571348,11,rs174548,2017-08-30,27863252,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",,11q12.2,11,61803876.0,FADS1,FADS1,,,3992,,,rs174548-G,rs174548,0,174548.0,5_prime_UTR_variant,0.0,0.3146,4.9999999999999997e-23,22.3010299957,,0.03863999,[0.031-0.046] unit increase,Affymetrix [~ 2500000] (imputed),N
67,CTSF,0.000109204,0.00150227243033,66335308,11,rs2242663,2009-05-14,19416921,Scott LJ,2009-05-05,Proc Natl Acad Sci U S A,www.ncbi.nlm.nih.gov/pubmed/19416921,Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.,Bipolar disorder,"3,683 European ancestry cases, 14,507 European ancestry controls",,11q13.2,11,66567837,NR,CTSF,,,8722,,,rs2242663-T,rs2242663,0,2242663,intron_variant,0.0,0.25,1e-06,6.0,,1.2,[1.11-1.29],"Affymetrix, Illumina [2366197] (imputed)",N
68,ZNF641,0.00489705,0.0394374411118,48736303,12,rs2732480,2017-08-30,27863252,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",,12q13.11,12,48342520.0,ZNF641,ZNF641,,,121274,,,rs2732480-A,rs2732480,0,2732480.0,3_prime_UTR_variant,0.0,0.4274,4e-36,35.3979400087,,0.04469711,[0.038-0.052] unit increase,Affymetrix [~ 2500000] (imputed),N
69,ZNF641,0.00489705,0.0394374411118,48736303,12,rs2732480,2017-08-30,27863252,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",,12q13.11,12,48342520.0,ZNF641,ZNF641,,,121274,,,rs2732480-A,rs2732480,0,2732480.0,3_prime_UTR_variant,0.0,0.4274,8.000000000000001e-29,28.096910013,,0.03986448,[0.033-0.047] unit increase,Affymetrix [~ 2500000] (imputed),N
70,ZNF641,0.00489705,0.0394374411118,48736303,12,rs2732480,2017-08-30,27863252,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",,12q13.11,12,48342520.0,ZNF641,ZNF641,,,121274,,,rs2732480-A,rs2732480,0,2732480.0,3_prime_UTR_variant,0.0,0.4274,1e-17,17.0,,0.03060888,[0.024-0.038] unit increase,Affymetrix [~ 2500000] (imputed),N
71,RPS26,2.2065e-25,9.74696521052e-23,56470625,12,rs11171739,2008-06-16,17554300,WTCCC,2007-06-07,Nature,www.ncbi.nlm.nih.gov/pubmed/17554300,"Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.",Type 1 diabetes,"1,963 European ancestry cases, 2,938 European ancestry controls",(see Todd 2007),12q13.2,12,56076841,ERBB3,RPS26 - ERBB3,6231.0,2065.0,,32618.0,3184.0,rs11171739-C,rs11171739,0,11171739,upstream_gene_variant,1.0,0.42,1.0000000000000001e-11,11.0,,1.34,[1.17-1.54],Affymetrix [469557],N
72,KATNAL1,4.28376e-07,1.04057380147e-05,30885223,13,rs185694,2012-09-27,22808956,Lyons PA,2012-07-19,N Engl J Med,www.ncbi.nlm.nih.gov/pubmed/22808956,Genetically distinct subsets within ANCA-associated vasculitis.,Antineutrophil cytoplasmic antibody-associated vasculitis,"914 European ancestry cases, 5,259 European ancestry controls","1,454 European ancestry cases, 1,666 European ancestry controls",13q12.3,13,30311086,KATNAL1,KATNAL1 - LINC00426,84056.0,100188949.0,,3586.0,29180.0,rs185694-?,rs185694,0,185694,upstream_gene_variant,1.0,NR,4e-06,5.39794000867,,,,Affymetrix [NR],N
73,NTAN1,3.58823e-08,1.08345886049e-06,15140211,16,rs4500751,2012-03-27,22359512,Demirkan A,2012-02-16,PLoS Genet,www.ncbi.nlm.nih.gov/pubmed/22359512,Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.,Phospholipid levels (plasma),"4,034 European ancestry individuals",,16p13.11,16,15046354,PDXDC1,"NTAN1, PDXDC1",,,"123803, 23042",,,rs4500751-?,rs4500751,0,4500751,intron_variant,0.0,NR,6e-23,22.2218487496,(levels),0.0,[0.80-2.40] % increase,Illumina [NR] (imputed),N
74,EIF3CL,2.33502e-06,4.72028087322e-05,28825605,16,rs2008514,2017-08-18,28448500,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",16p11.2,16,28814284,ATXN2L,RPS15AP33,,,100271654,,,rs2008514-?,rs2008514,0,2008514.0,non_coding_transcript_exon_variant,0.0,NR,8e-10,9.09691001301,(men),,,"Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)",N
75,EIF3CL,2.33502e-06,4.72028087322e-05,28825605,16,rs2008514,2017-08-18,28448500,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",16p11.2,16,28814284,ATXN2L,RPS15AP33,,,100271654,,,rs2008514-A,rs2008514,0,2008514.0,non_coding_transcript_exon_variant,0.0,0.3886,2e-17,16.6989700043,,0.0307,[0.024-0.038] kg/m2 increase,"Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)",N
76,EIF3CL,2.33502e-06,4.72028087322e-05,28825605,16,rs2008514,2017-08-18,28448500,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",16p11.2,16,28814284,ATXN2L,RPS15AP33,,,100271654,,,rs2008514-A,rs2008514,0,2008514.0,non_coding_transcript_exon_variant,0.0,0.3983,2e-09,8.69897000434,"(EA, men)",0.0333,[0.023-0.044] kg/m2 increase,"Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)",N
77,EIF3CL,2.33502e-06,4.72028087322e-05,28825605,16,rs2008514,2017-08-18,28448500,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",16p11.2,16,28814284,ATXN2L,RPS15AP33,,,100271654,,,rs2008514-A,rs2008514,0,2008514.0,non_coding_transcript_exon_variant,0.0,0.3886,1e-10,10.0,(men),0.0339,[0.024-0.044] kg/m2 increase,"Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)",N
78,EIF3CL,2.33502e-06,4.72028087322e-05,28825605,16,rs2008514,2017-08-18,28448500,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",16p11.2,16,28814284,ATXN2L,RPS15AP33,,,100271654,,,rs2008514-A,rs2008514,0,2008514.0,non_coding_transcript_exon_variant,0.0,0.3937,1e-08,8.0,(men),0.0346,[0.023-0.047] kg/m2 increase,"Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)",N
79,TMEM199,1.29366e-07,3.49873306074e-06,26649724,17,rs11080055,2016-10-10,26691988,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",17q11.2,17,28322698,"TMEM97, VTN",TMEM97,,,27346,,,rs11080055-?,rs11080055,0,11080055.0,intron_variant,0.0,NR,1E-8,8.0,(EA),1.098901,,Illumina [12023830] (imputed),N
80,LIG3,0.0013409,0.0132500759908,33331575,17,rs1052536,2015-04-16,24952745,Arking DE,2014-06-22,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/24952745,Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.,QT interval,"Up to 70,389 European ancestry individuals, up to 672 Orcadian individuals","Up to 33,316 European ancestry individuals",17q12,17,35004556,LIG3,LIG3,,,3980,,,rs1052536-C,rs1052536,0,1052536.0,3_prime_UTR_variant,0.0,0.53,6E-25,24.2218487496,,0.98,[0.78-1.18] unit increase,"Affymetrix, Illumina [~ 2500000] (imputed)",N
81,PRKCA,4.08304e-26,2.02909154486e-23,64318357,17,rs9912468,2017-03-31,27659466,van der Harst P,2016-09-27,J Am Coll Cardiol,www.ncbi.nlm.nih.gov/pubmed/27659466,52 Genetic Loci Influencing Myocardial Mass.,QRS duration,"59,565 European ancestry individuals, 690 Orcadian (founder/genetic isolate) individuals","13,263 European ancestry individuals, 3,603 African American individuals, 4,619 Indian ancestry individuals",17q24.2,17,66322239,PRKCA,PRKCA,,,5578,,,rs9912468-?,rs9912468,0,9912468.0,intron_variant,0.0,NR,2E-11,10.6989700043,(EA),,,"Affymetrix, Illumina, Perlegen [at least 2766983] (imputed)",N
82,PRKCA,4.08304e-26,2.02909154486e-23,64318357,17,rs9912468,2017-04-01,27659466,van der Harst P,2016-09-27,J Am Coll Cardiol,www.ncbi.nlm.nih.gov/pubmed/27659466,52 Genetic Loci Influencing Myocardial Mass.,QRS complex (Sokolow-Lyon),"up to 54,303 European ancestry individuals, up to 690 Orcadian (founder/genetic isolate) individuals","13,263 European ancestry individuals, 3,603 African American individuals, 4,619 Indian ancestry individuals",17q24.2,17,66322239,PRKCA,PRKCA,,,5578,,,rs9912468-?,rs9912468,0,9912468.0,intron_variant,0.0,NR,3E-12,11.5228787453,(EA),32.05,[23.03-41.07] unit increase,"Affymetrix, Illumina, Perlegen [2766983] (imputed)",N
83,PRKCA,4.08304e-26,2.02909154486e-23,64318357,17,rs9912468,2017-04-01,27659466,van der Harst P,2016-09-27,J Am Coll Cardiol,www.ncbi.nlm.nih.gov/pubmed/27659466,52 Genetic Loci Influencing Myocardial Mass.,QRS complex (12-leadsum),"up to 47,942 European ancestry individuals, up to 690 Orcadian (founder/genetic isolate) individuals","13,263 European ancestry individuals, 3,603 African American individuals, 4,619 Indian ancestry individuals",17q24.2,17,66322239,PRKCA,PRKCA,,,5578,,,rs9912468-?,rs9912468,0,9912468.0,intron_variant,0.0,NR,5E-11,10.3010299957,(EA),,,"Affymetrix, Illumina, Perlegen [2766983] (imputed)",N
84,PRKCA,4.08304e-26,2.02909154486e-23,64318357,17,rs9912468,2017-02-08,27577874,Evans DS,2016-08-29,Hum Mol Genet,www.ncbi.nlm.nih.gov/pubmed/27577874,"Fine-mapping, Novel Loci Identification, and SNP Association Transferability in a Genome-Wide Association Study of QRS Duration in African Americans.",QRS duration,"up to 13,031 African Americans individuals, 40,407 European ancestry individuals",,17q24.2,17,66322239,PRKCA,PRKCA,,,5578,,,rs9912468-C,rs9912468,0,9912468.0,intron_variant,0.0,0.57,1E-8,8.0,(European),0.39,[NR] millisecond decrease,"Affymetrix, Illumina [2955816] (imputed)",N
85,PRKCA,4.08304e-26,2.02909154486e-23,64318357,17,rs9912468,2017-02-08,27577874,Evans DS,2016-08-29,Hum Mol Genet,www.ncbi.nlm.nih.gov/pubmed/27577874,"Fine-mapping, Novel Loci Identification, and SNP Association Transferability in a Genome-Wide Association Study of QRS Duration in African Americans.",QRS duration,"up to 13,031 African Americans individuals, 40,407 European ancestry individuals",,17q24.2,17,66322239,PRKCA,PRKCA,,,5578,,,rs9912468-C,rs9912468,0,9912468.0,intron_variant,0.0,,1E-10,10.0,,0.38,[0.26-0.5] millisecond decrease,"Affymetrix, Illumina [2955816] (imputed)",N
86,CANT1,1.44992e-06,3.08255211407e-05,76988785,17,rs11891,2015-11-20,25886283,Chang X,2015-04-17,PLoS One,www.ncbi.nlm.nih.gov/pubmed/25886283,Genome-wide association study of serum minerals levels in children of different ethnic background.,Magnesium levels,"2,317 European ancestry children, 1,283 African American ancestry children",,17q25.3,17,78992703,NR,CANT1,,,124583,,,rs11891-T,rs11891,0,11891.0,missense_variant,0.0,NR,7E-6,5.15490195999,,0.0322,[NR] mg/dl decrease,Illumina [up to 509150],N
87,RAB4B,0.000597471,0.00653761860329,41310571,19,rs3733829,2010-05-24,20418890,The Tobacco and Genetics Consortium,2010-04-25,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/20418890,Genome-wide meta-analyses identify multiple loci associated with smoking behavior.,Smoking behavior,"Up to 74,035 European ancestry individuals","Up to 68,988 participants",19q13.2,19,40804666,"EGLN2, CYP2A6","RAB4B-EGLN2, EGLN2",,,"100529264, 112398",,,rs3733829-G,rs3733829,0,3733829,non_coding_transcript_exon_variant,0.0,0.36,1e-08,8.0,(CPD),0.33,[0.22-0.44] CPD increase,"Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)",N
88,ZNF702P,0.00253654,0.0228843988535,53451291,19,rs9304742,2016-02-10,25903422,Yin X,2015-04-23,Nat Commun,www.ncbi.nlm.nih.gov/pubmed/25903422,Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.,Psoriasis,"3,496 European ancestry cases, 5,186 European ancestry controls, 1,588 Chinese ancestry cases, 3,546 Chinese ancestry controls","5,134 European ancestry cases, 5,633 European ancestry controls, 5,151 Chinese ancestry cases, 5,152 Chinese ancestry controls",19q13.41,19,52948038,ZNF816A,ZNF816-ZNF321P,,,100529240,,,rs9304742-T,rs9304742,0,9304742.0,intron_variant,0.0,0.643,6E-7,6.22184874962,,1.17,[1.1-1.25],Illumina [up to 4778154] (imputed),N
89,ENTPD6,0.00166416,0.0159552622538,25206654,20,rs1044573,2011-12-01,22036096,Ramasamy A,2011-11-01,J Allergy Clin Immunol,www.ncbi.nlm.nih.gov/pubmed/22036096,A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.,Allergic rhinitis,"3,933 European ancestry cases, 8,965 European ancestry controls",,20p11.21,20,25226018,ENTPD6,ENTPD6,,,955,,,rs1044573-A,rs1044573,0,1044573,3_prime_UTR_variant,0.0,0.51,1e-06,6.0,,1.15,[1.09-1.21],"Affymetrix, Illumina [2217510] (imputed)",N
90,ARSA,0.000156195,0.0020426856476,51063477,22,rs6151429,2014-12-10,24816252,Shin SY,2014-05-11,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/24816252,An atlas of genetic influences on human blood metabolites.,Blood metabolite levels,"7,824 European ancestry individuals",,22q13.33,22,50625049,ARSA,ARSA,,,410,,,rs6151429-T,rs6151429,0,6151429,3_prime_UTR_variant,0.0,0.93,7.000000000000001e-18,17.15490196,(X-11423--O-sulfo-L-tyrosine),0.029,[0.023-0.035] unit decrease,"Affymetrix, Illumina [2100000] (imputed)",N
91,ARSA,0.000156195,0.0020426856476,51063477,22,rs6151429,2014-12-10,24816252,Shin SY,2014-05-11,Nat Genet,www.ncbi.nlm.nih.gov/pubmed/24816252,An atlas of genetic influences on human blood metabolites.,Blood metabolite levels,"7,824 European ancestry individuals",,22q13.33,22,50625049,ARSA,ARSA,,,410,,,rs6151429-T,rs6151429,0,6151429,3_prime_UTR_variant,0.0,0.93,5e-13,12.3010299957,(X-12749),0.025,[0.017-0.033] unit decrease,"Affymetrix, Illumina [2100000] (imputed)",N