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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 Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to

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.

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Notice: The updated Catalog content may now be searched at

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]
[SNPs passing QC]
08/05/14 Okada Y
December 25, 2013
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Rheumatoid arthritis up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls 22q12.3 IL2RB IL2RB rs3218251-A intron 0.27 6 x 10-6 (EA) 1.08 [1.04-1.11] Affymetrix & Illumina
[up to 9,739,303] (Imputed)
04/10/14 Chimusa ER
September 18, 2013
Hum Mol Genet
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
Tuberculosis 642 South African coloured cases, 91 South African coloured controls NA 22q12.3 IL2RB IL2RB rs3218255-G intron 0.69 2 x 10-7 4 [NR] Affymetrix
[up to 4,467,279] (imputed)
09/21/11 Plagnol V
August 04, 2011
PLoS Genet
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Type 1 diabetes autoantibodies 12,501 European ancestry cases 3,598 sibling cases 22q12.3 IL2RB IL2RB - C1QTNF6 rs743777-G NR 2 x 10-6 (T1D) 1.1 [NR] Affymetrix and Illumina
06/29/11 Eleftherohorinou H
June 13, 2011
Hum Mol Genet
Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways.
Rheumatoid arthritis 1,860 European ancestry cases, 2,938 European ancestry controls, 908 cases, 1,260 controls NA 22q12.3 IL2RB IL2RB - C1QTNF6 rs743777-G NR 2 x 10-6 1.19 [1.10-1.30] Affymetrix & Illumina
10/14/10 Moffatt MF
September 23, 2010
N Engl J Med
A large-scale, consortium-based genomewide association study of asthma.
Asthma 10,365 cases, 16,110 controls NA 22q12.3 IL2RB IL2RB rs2284033-G intron 0.56 1 x 10-8 1.12 [1.08-1.16] Illumina

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