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Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


Update (5/12/15): The NHGRI-EBI GWAS Catalog has moved to the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) at  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

Why has the catalog moved to EMBL-EBI?
From September 2010 to the present, delivery and development of the Catalog has been a collaborative project between EMBL-EBI and NHGRI. In March 2015 the Catalog infrastructure moved to EMBL-EBI to enable delivery of an improved user interface, including ontology driven Catalog searching, and new curatorial infrastructure, supporting improved QC processes. Catalog content available through this original GWAS Catalog website was last updated on February 20th 2015 with all previous and updated content available at EMBL-EBI. 


The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Read our recent article from Nucleic Acids Research.

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio, NHGRI; Tony Burdett, Dani Welter, and Helen Parkinson, EBI

 
An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
 

The genome-wide association study (GWAS) publications in the Catalog include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content.  GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria.  Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. The scope of the GWAS Catalog is currently being expanded to include studies of large-scale targeted/non-genome-wide arrays, including the Metabochip, Immunochip and Exome arrays. This is currently in a pilot phase where prioritization of targeted and exome array studies for inclusion in the Catalog is by 1) relevance of the trait analyzed 2) user request.  

How to cite the NHGRI GWAS Catalog:
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington Z, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, and Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Research, 2017, Vol. 45 (Database issue): D896-D901.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

 

 

 

 





Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Description
Replication Sample Description Region Reported Gene(s) Mapped Gene(s) Strongest SNP-Risk Allele Context Risk Allele Frequency in Controls P-value
OR or beta-coefficient and [95% CI]
Platform
[SNPs passing QC]
CNV
11/15/14 Guan W
May 13, 2014
Circ Cardiovasc Genet
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) 8,631 European ancestry individuals NA 11q12.2[rs174550]; 11q12.2[rs174547] C11orf9, FEN1, FADS1, FADS2, FADS3, C11orf10, RAB3IL1, DAGLA, BEST1 NA rs174550-T 0.674 4 x 10-140 .05 [NR] unit increase Illumina & Affymetrix
[~2.5 Million] (imputed)
N
6p24.2 ELOVL2 ELOVL2 rs2236212-C intron 0.431 7 x 10-7 .01 [NR] unit increase
10q21.3 REEP3, JMJD1C, NRBF2 REEP3 rs10761785-T intron 0.498 7 x 10-7 .01 [NR] unit increase
8p22 SLC7A2 SLC7A2 rs1962772-T intron 0.623 9 x 10-7 .01 [NR] unit increase
11p13 SLC1A2 SLC1A2 rs4083482-T intron 0.039 2 x 10-6 .03 [NR] unit decrease
6p21.32 PPT2, AGPAT1 PPT2; PPT2-EGFL8 rs3134950-A intron;intron 0.625 6 x 10-6 .01 [NR] unit decrease
11/15/14 " Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) 8,631 European ancestry individuals NA 11q12.2 FADS2, C11orf9, FEN1, FADS1, FADS3, RAB3IL1, BEST1, DAGLA, FTH1, INCENP, SYT7, SCGB2A1, SCGB1D1, AHNAK, SCGB2A2 FADS1 rs174547-C intron 0.33 3 x 10-971 1.69 [1.65-1.73] unit decrease Illumina & Affymetrix
[~2.5 Million] (imputed)
N
11q12.2 FADS2, C11orf9, FEN1, FADS1, FADS3, RAB3IL1, BEST1, DAGLA, FTH1, INCENP, SYT7, SCGB2A1, SCGB1D1, AHNAK, SCGB2A2 TMEM258 rs102275-C intron 0.30 7 x 10-147 (Conditioned on rs174547) 2.49 [2.29-2.69] unit decrease
16p13.11 PDXDC1, NTAN1 PDXDC1 rs1741-C intron 0.308 2 x 10-10 .2 [NR] unit decrease
3q13.33 TMEM39A TMEM39A rs16829840-T ncRNA 0.014 3 x 10-8 .46 [NR] unit increase
6p21.1 PTCRA, RPL7L1 TRNAI25 rs9394931-T 0.41 2 x 10-6 .15 [NR] unit decrease
6p12.3 C6orf138 PTCHD4 rs12209128-T intron 0.379 3 x 10-6 .15 [NR] unit decrease
5q31.1 SLC22A5 SLC22A5 rs274557-T intron 0.599 4 x 10-6 .14 [NR] unit increase
2p12 C2orf3 GCFC2 - SUCLA2P2 rs12471016-T 0.086 4 x 10-6 .25 [NR] unit decrease
11/15/14 " Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) 8,631 European ancestry individuals NA 11q12.2[rs174555]; 11q12.2[rs174547] FADS1, DAGLA, C11orf9, FEN1, FADS2, FADS3, RAB3IL1, C11orf10, BEST1, FTH1 NA rs174555-T 0.71 5 x 10-168 .39 [NR] unit decrease Illumina & Affymetrix
[~2.5 Million] (imputed)
N
16p13.11[rs4985155]; 16p13.11[rs16966952] PDXDC1, NTAN1, RRN3, C16orf45, PARN, MYH11, KIAA0430, NDEI NA rs4985155-A 0.648 2 x 10-67 .22 [NR] unit increase
16p13.11 PDXDC1, NTAN1, RRN3, C16orf45, PARN, MYH11, KIAA0430, NDEI PDXDC1; NTAN1 rs2280018-A intron;nearGene-5 0.39 5 x 10-25 (Conditioned on rs16966952) .16 [0.12-0.20] unit decrease
9q33.1 TLR4 TLR4 rs5030717-A intron 0.887 1 x 10-6 .1 [NR] unit decrease
3q13.11 ALCAM TRNAE27P - ALCAM rs12637047-T 0.386 2 x 10-6 .06 [NR] unit decrease
1q44 OR2B11 OR2B11 - OR2W5 rs4604732-T 0.82 2 x 10-6 .08 [NR] unit decrease
6p11.2 PRIM2 RBBP4P4 - GAPDHP41 rs9476082-A 0.167 4 x 10-6 .09 [NR] unit decrease
11q13.5 MOGAT2 MOGAT2 - DGAT2 rs600626-A 0.827 5 x 10-6 .07 [NR] unit increase
11/15/14 " Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) 8,631 European ancestry individuals NA 11q12.2 FADS1, DAGLA, C11orf9, C11orf10, FEN1, FADS2, FADS3, RAB3IL1, FTH1, DAGLA, BEST1 FADS1 rs174547-T intron 0.674 2 x 10-72 .02 [0.018-0.022] unit increase Illumina & Affymetrix
[~2.5 Million] (imputed)
N
16p13.11[rs4985155]; 16p13.11[rs16966952] PDXDC1, NTAN1, RRN3, C16orf45, PARN, MYH11, KIAA0430, NDEI NA rs4985155-A 0.647 2 x 10-12 .01 [NR] unit increase
1q32.1 PCTK3 TRNAK11 - CDK18 rs6680582-A 0.072 5 x 10-7 .01 [NR] unit decrease
12q14.1 LRIG3 LOC100506869 rs7968324-T intron 0.958 8 x 10-7 .01 [NR] unit increase
8p23.2 CSMD1 MIR7160 - CSMD1 rs10097215-T 0.122 2 x 10-6 .01 [NR] unit decrease
9q21.31 TLE4 CHCHD2P9 - TLE4 rs12554999-A 0.05 2 x 10-6 .01 [NR] unit decrease
8q12.3 RLBP1L1 CLVS1 rs7826834-T intron 0.015 3 x 10-6 .02 [NR] unit decrease
1p36.23 SLC45A1 LOC102724539 rs421490-A nearGene-3 0.882 3 x 10-6 .01 [NR] unit increase
3q21.3 DNAJB8 EEFSEC - DNAJB8 rs2659703-A 0.4 3 x 10-6 NR
10p13 C10orf97 FTLP19 - PTER rs2069036-T 0.245 8 x 10-6 NR
11/15/14 " Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) 8,631 European ancestry individuals NA 11q12.2[rs174550]; 11q12.2[rs174547] FADS1, DAGLA, SYT7, FADS2, FADS3, RAB3IL, C11orf9, C11orf10, FEN1, BEST1, FTH1, INCENP, SCGB1D1, SCGB2A1, SCGB1D2 NA rs174550-T 0.676 4 x 10-274 1.47 [NR] unit decrease Illumina & Affymetrix
[~ 2.5 Million] (imputed)
N
11q12.2 FADS1, DAGLA, SYT7, FADS2, FADS3, RAB3IL, C11orf9, C11orf10, FEN1, BEST1, FTH1, INCENP, SCGB1D1, SCGB2A1, SCGB1D2 FADS2 rs2727270-T intron 0.44 3 x 10-21 (Conditioned on rs174547) .69 [0.55-0.83] unit increase
16p13.11[rs1136001]; 16p13.11[rs16966952] PDXDC1, NTAN1, RRN3, C16orf45, PARN, MYH11, KIAA0430, NDEI NA rs1136001-T 0.309 1 x 10-15 .35 [NR] unit increase
16p13.11 PDXDC1, NTAN1, RRN3, C16orf45, PARN, MYH11, KIAA0430, NDEI PDXDC1; NTAN1 rs2280018-A intron;nearGene-5 0.38 4 x 10-14 (Conditioned on rs16966952) .38 [0.28-0.48] unit increase
10q21.3 JMJD1C, NRBF2, REEP3 JMJD1C rs10740118-C intron 0.44 8 x 10-9 .25 [0.15-0.35] unit decrease
16p13.11 C16orf45 C16orf45 rs34792-C intron 0.38 3 x 10-6 .21 [NR] unit increase
1p31.3 IL23R IL23R rs7517847-T intron 0.578 4 x 10-6 .19 [NR] unit increase
10q11.23 C10orf71 C10orf128 - C10orf71-AS1 rs17009617-A 0.055 5 x 10-6 .45 [NR] unit decrease




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Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015