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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
11/26/14 Armstrong DL
May 29, 2014
Genes Immun
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
Systemic lupus erythematosus 725 European ancestry cases, 2,438 European ancestry controls NA 6p21.33 C2 C2; ZBTB12 rs558702-A intron;nearGene-5 0.1 8 x 10-21 2.276 [2.097-2.47] Illumina
[NR]
N
09/10/13 Reiner AP
April 24, 2013
Hum Mol Genet
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
Circulating myeloperoxidase levels (serum) 9,305 European ancestry individuals   6p21.32 NOTCH4,C2,HLA NOTCH4 rs3134931-T intron 0.73 1 x 10-8 .05 [0.030-0.070] unit decrease Illumina & Affymetrix
[2,397,181]
N
07/31/13 Fritsche LG
March 03, 2013
Nat Genet
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 6p21.33 C2, CFB SKIV2L rs429608-G intron 0.86 4 x 10-89 1.74 [1.68-1.79] Illumina & Affymetrix
[2,442,884] (Imputed)
N
08/15/12 Sobrin L
June 15, 2012
Ophthalmology
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Age-related macular degeneration (CNV) 1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls 4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls 6p21.33 C2 C2; LOC102060414 rs9332739-? missense;intron 0.955 2 x 10-8 2.08 [1.61-2.7] Affymetrix & Illumina
[6,036,699] (imputed)
N
08/15/12 " Age-related macular degeneration (GA) 819 European ancestry geographic atrophy cases, 4,134 European ancestry controls NA 6p21.33 C2 C2; LOC102060414 rs9332739-? missense;intron 0.955 1 x 10-6 2.63 [1.79-3.85] Affymetrix & Illumina
[6,036,699] (imputed)
N
06/29/11 Yu Y
June 10, 2011
Hum Mol Genet
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Age-related macular degeneration 2,594 European ancestry cases, 4,134 European ancestry controls 5,640 European ancestry cases, 52,174 European ancestry controls 6p21.33 C2 C2; LOC102060414 rs9332739-? missense;intron 0.96 2 x 10-23 2.17 [NR] Affymetrix
[6,036,699] (imputed)
N
01/10/11 Clifford RJ
December 01, 2010
Hepatology
Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.
Hepatocellular carcinoma 180 Korean ancestry cases, 271 Korean ancestry controls 206 Korean ancestry cases, 416 East Asian ancestry controls, 6p21.33 C2 C2 rs9267673-? intron 0.08 2 x 10-6 1.97 [1.47-2.64] Affymetrix
[658,897]
N
07/01/14 Chen W
April 12, 2010
Proc Natl Acad Sci U S A
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
Age-related macular degeneration 2,157 European ancestry cases, 1,150 European ancestry controls 7,892 European ancestry cases, 5,998 European ancestry controls, 678 Japanese ancestry cases, 336 Japanese ancestry controls 6p21.33 C2, CFB SKIV2L rs429608-G intron 0.842 3 x 10-21 2.16 [1.84-2.53] Illumina
[~2.5 million] (imputed)
N
6p21.33 C2, CFB C2; LOC102060414 rs9380272-A intron;intron 0.012 2 x 10-8 4.31 [2.76-6.87]
05/06/10 Neale BM
April 12, 2010
Proc Natl Acad Sci U S A
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Age-related macular degeneration 979 cases, 1,709 controls 868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls 6p21.33 CFB,C2 CFB rs641153-? missense NR 2 x 10-20 NR Affymetrix
[632,932]
N




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