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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]
10/24/12 Lango Allen H
September 29, 2010
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Height 133,653 European ancestry individuals 50,074 European ancestry individuals View full set of 199 SNPs Affymetrix, Illumina
[2,834,208] (imputed)
7q21.2 CDK6 CDK6 rs42235-T intron 0.31 8 x 10-47 .057 [NR] unit increase
20q11.22 GDF5 GDF5 rs143384-A 0.58 1 x 10-58 .063 [NR] unit decrease
4p15.31 LCORL KRT18P63 - RPL21P46 rs6449353-T 0.85 7 x 10-46 .075 [NR] unit increase
12q14.3 HMGA2 HMGA2 rs1351394-T intron 0.49 2 x 10-65 .06 [NR] unit increase
3q23 ZBTB38 ZBTB38 rs724016-A intron 0.56 3 x 10-86 .07 [NR] unit decrease
4q31.21 HHIP HHIP; HHIP-AS1 rs7689420-T intron;nearGene-5 0.16 6 x 10-51 .073 [NR] unit decrease
13q14.3 DLEU7 RPL34P26 - DLEU7 rs3118905-A 0.29 1 x 10-45 .056 [NR] unit decrease
6p22.2 Histone cluster HIST1H2AD; HIST1H2BF; HIST1H3D rs806794-A nearGene-5;nearGene-3;nearGene-5 0.7 1 x 10-39 .052 [NR] unit increase
15q25.2 ADAMTSL3 ADAMTSL3 rs11259936-A intron 0.48 2 x 10-35 .044 [NR] unit decrease
2p16.1 EFEMP1 EFEMP1 rs3791675-T intron 0.23 3 x 10-35 .053 [NR] unit decrease

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