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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 2p16.3 FSHR MIR548BA - RPL7P13 rs10495970-? 5 x 10-7 (AA) 10.3 [NR] Illumina
11/14/13 Low SK
May 04, 2013
Cancer Sci
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide) 54 Japanese ancestry cases, 39 Japanese ancestry controls NA 2p16.3 FSHR MIR548BA - RPL7P13 rs12987465-A 0.359 7 x 10-6 (Recessive model) 2.597 [1.424-4.737] Illumina
10/09/12 Shi Y
August 12, 2012
Nat Genet
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
Polycystic ovary syndrome 2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls 8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls 2p16.3 FSHR FSHR rs2268361-C intron 0.504 1 x 10-12 1.15 [NR] Affymetrix
[NR] (imputed)
01/16/11 Chen ZJ
December 12, 2010
Nat Genet
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
Polycystic ovary syndrome 744 Han Chinese ancestry cases, 895 Han Chinese ancestry controls 3,338 Han Chinese ancestry cases, 5,792 Han Chinese ancestry controls 2p16.3 GTF2A1L,LHCGR,FSHR LHCGR; STON1-GTF2A1L rs13405728-A intron;intron 0.76 8 x 10-21 1.41 [1.30-1.49] Affymetrix
11/15/10 Kerns SL
October 05, 2010
Int J Radiat Oncol Biol Phys
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
Erectile dysfunction and prostate cancer treatment 27 African American cases, 52 African American controls NA 2p16.3 FSHR FSHR rs2268363-? intron 0.18 5 x 10-8 7.03 [NR] Affymetrix
11/23/10 Niu N
October 05, 2010
Genome Res
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
Radiation response Human lymphoblastoid cell lines; 93 of African American, 89 of European ancestry, and 95 of Han Chinese American ancestry NA 2p16.3 FSHR CTBP2P5 - FSHR rs7591064-? 0.11 5 x 10-6 NR Affymetrix & Illumina

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