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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]
10/28/14 Leger PD
February 20, 2014
J Neurovirol
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) 8 European ancestry cases, 12 African American cases, 3 Hispanic cases, 85 European ancestry controls, 49 African American controls, 30 Hispanic controls NA 7p21.1 HDAC9 HDAC9 rs213273-? intron 2 x 10-8 (Hispanic) NR Illumina
07/23/14 Dichgans M
November 21, 2013
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Coronary artery disease or large artery stroke 2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls NA 7p21.1 HDAC9 TWIST1 rs2107595-? intron 3 x 10-12 NR Affymetrix & Illumina
[up to 2.5 million] (imputed)
07/23/14 " Large artery stroke 2,167 cases, 49,159 controls NA 7p21.1 HDAC9 TWIST1 rs2107595-A intron 3 x 10-12 1.39 [1.27-1.52] Illumina and Affymetrix
[~2.4 Million] (imputed)
05/14/13 Jensen RA
February 05, 2013
PLoS One
Genome-wide association study of retinopathy in individuals without diabetes.
Retinopathy in non-diabetics 19,411 European ancestry individuals NA 7p21.1 HDAC9 HDAC9 rs12155400-A intron 0.98 8 x 10-6 .73 [0.42-1.04] unit decrease Illumina
[2,675,979] (Imputed)
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 7p21.1 HDAC9 HDAC9 rs2853552-A intron 0.26 7 x 10-6 (BMI z-score change ) .03 [NR] SD/y increase Illumina
7p21.1 HDAC9 HDAC9 rs12666612-G intron 0.088 8 x 10-6 (Vigorous activity ) .03 [NR] min/d increase
01/09/13 Traylor M
October 05, 2012
Lancet Neurol
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
Stroke (ischemic) 12,389 European ancestry cases, 62,004 European ancestry controls 1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls 7p21.1 HDAC9 TWIST1 rs2107595-A intron 0.16 2 x 10-16 (LVD) 1.39 [1.27-1.53] Affymetrix & Illumina
[NR] (imputed)
7p21.1 HDAC9 TWIST1 rs2107595-A intron 0.16 4 x 10-6 (IS) 1.12 [1.07-1.17]
08/15/12 Li R
May 31, 2012
PLoS Genet
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Male-pattern baldness 3,891 European ancestry cases, 8,915 European ancestry controls NA 7p21.1 HDAC9 HDAC9 rs2073963-G intron 0.530 1 x 10-12 1.29 [1.20-1.38] Affymetrix & Illumina
[2,391,230] (imputed)
03/09/12 Bellenguez C
February 05, 2012
Nat Genet
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.
Stroke 3,548 European ancestry cases, 5,972 European ancestry controls 6,594 European ancestry cases, 34,864 European ancestry controls 7p21.1 HDAC9 HDAC9 rs11984041-A intron 0.09 2 x 10-11 (LVD) 1.42 [1.28-1.57] 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 7p21.1 HDAC9 HDAC9 rs11764116-A intron NR 2 x 10-6 (Analysis II) NR Illumina

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