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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]
03/04/14 Yu B
August 11, 2013
Genet Epidemiol
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
Metabolite levels (Dihydroxy docosatrienoic acid) 1,260 African American individuals NA 7q21.11 CACNA2D1 CACNA2D1 - MTHFD2P5 rs10262537-C 7 x 10-6 .08 [0.04-0.11] unit increase Affymetrix
[~2.5 million] (Imputed)
09/28/13 Dubinsky MC
May 09, 2013
Inflamm Bowel Dis
Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease.
Crohn's disease (need for surgery) 239 European ancestry cases that required surgery within 5 year, 375 European ancestry cases that did not require surgery within 5 years NA 7q21.11 CACNA2D1 CACNA2D1 rs11978472-? intron 0.70 6 x 10-6 2 [1.43-2.50] Illumina
04/09/13 Comuzzie AG
December 04, 2012
PLoS One
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Obesity-related traits 815 Hispanic children from 263 families NA 7q21.11 CACNA2D1 CACNA2D1 rs6942458-G intron 0.219 6 x 10-7 (HRmax ) .05 [NR] bpm increase Illumina
08/20/13 Haritunians T
November 01, 2010
Inflamm Bowel Dis
Genetic predictors of medically refractory ulcerative colitis.
Ulcerative colitis 324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls NA 7q21.11 CACNA2D1 CACNA2D1 rs929351-C intron NR 8 x 10-6 (Analysis II) NR Illumina
09/24/10 Chalasani N
August 10, 2010
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
Non-alcoholic fatty liver disease histology (lobular) 236 European ancestry cases NA 7q21.11 CACNA2D1 CACNA2D1 rs10954668-A intron 0.33 7 x 10-6 .32 [NR] unit decrease Illumina

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