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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]
05/12/14 Willer CJ
October 06, 2013
Nat Genet
Discovery and refinement of loci associated with lipid levels.
LDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 22q12.2 MTMR3 MTMR3 rs5763662-T intron 0.04 1 x 10-8 .077 [NR] unit increase NR (Imputed) N
02/12/13 Jostins L
November 01, 2012
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 22q12.2 LIF,OSM,MTMR3 HORMAD2 rs2412970-G intron 0.457 3 x 10-14 1.08 [1.049-1.111] Affymetrix & Illumina
[1.23 million](imputed)
01/24/12 Yu XQ
December 25, 2011
Nat Genet
A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.
IgA nephropathy 1,434 Han Chinese ancestry cases, 4,270 Han Chinese ancestry controls 2,703 Han Chinese ancestry cases, 3,464 Han Chinese ancestry controls 22q12.2 MTMR3 MTMR3; LOC101929664 rs12537-C UTR-3;intron 0.81 1 x 10-11 1.28 [1.19-1.39] Illumina
08/03/11 Hu Z
July 03, 2011
Nat Genet
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
Lung cancer 2,331 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls 6,313 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls 22q12.2 MTMR3 MTMR3 rs36600-A intron 0.09 6 x 10-13 1.29 [1.20-1.38] Affymetrix
04/12/11 Gharavi AG
March 13, 2011
Nat Genet
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
Nephropathy 1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls 712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls 22q12.2 HORMAD2, MTMR3, LIF, OSM HORMAD2 rs2412971-? intron 0.49 (EA) 2 x 10-9 1.25 [NR] Illumina
10/19/12 Franke A
November 21, 2010
Nat Genet
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Crohn's disease 6,333 European ancestry cases, 15,056 European ancestry controls 15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios 22q12.2 MTMR3 RPS3AP51 - LIF rs713875-C 0.471 7 x 10-12 1.08 [1.04-1.13] Affymetrix & Illumina
[953,241] (imputed)
12/10/09 Imielinski M
November 15, 2009
Nat Genet
Common variants at five new loci associated with early-onset inflammatory bowel disease.
Inflammatory bowel disease (early onset) 2,413 European ancestry cases, 6,158 European ancestry controls 1,013 European ancestry cases, 5,805 European ancestry controls 22q12.2 HORMAD2, MTMR3, LIF HORMAD2 rs2412973-? intron 0.46 2 x 10-9 1.15 [1.01-1.31] Illumina

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