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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]
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) (all antimicrotubule drugs) 371 Japanese ancestry cases, 825 Japanese ancestry controls NA 13q31.3 GPC5 GPC5 rs4771859-G intron 0.709 1 x 10-6 (Recessive model) 1.328 [1.088-1.623] Illumina
04/17/13 Cordell HJ
January 07, 2013
Hum Mol Genet
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.
Tetralogy of Fallot 835 European ancestry cases, 5,159 European ancestry controls 798 European ancestry cases and 2,931 European ancestry controls 13q31.3 GPC5 GPC5 rs7982677-A intron 0.281 3 x 10-9 1.288 [1.152-1.441] 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 13q31.3 GPC5 GPC5 rs7328464-A intron 0.053 4 x 10-7 (Sedentary activity ) .04 [NR] %awake time increase Illumina
13q31.3 GPC5 GPC5 rs7328464-A intron 0.053 5 x 10-6 (Sedentary activity ) .03 [NR] min/d increase
04/13/11 Okamoto K
March 27, 2011
Nat Genet
Common variation in GPC5 is associated with acquired nephrotic syndrome.
Nephrotic syndrome (acquired) 195 Japanese ancestry cases, 1,546 Japanese ancestry controls 662 Japanese ancestry cases, 4,919 Japanese ancestry controls 13q31.3 GPC5 GPC5 rs16946160-A intron 0.17 3 x 10-7 1.39 [1.22-1.57] Perlegen
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 13q31.3 GPC5 MIR92A1 - GPC5 rs7319045-A 0.4 1 x 10-11 .025 [NR] unit increase Affymetrix, Illumina
[2,834,208] (imputed)
05/10/10 Pelak K
April 15, 2010
J Infect Dis
Host determinants of HIV-1 control in African Americans.
HIV-1 viral setpoint 515 African American cases NA 13q31.3 GPC5 GPC5 rs1413191-? intron 0.18 5 x 10-6 NR Illumina
03/29/10 Li Y
March 19, 2010
Lancet Oncol
Genetic variants and risk of lung cancer in never smokers: a genome-wide association study.
Lung cancer 364 European ancestry cases, 364 European ancestry controls, 13 cases, 13 controls 446 European ancestry cases, 853 European ancestry controls, 65 cases, 154 controls 13q31.3 GPC5 GPC5 rs2352028-A intron 0.26 6 x 10-6 1.46 [1.26-1.70] Illumina
03/25/10 Okada Y
February 26, 2010
Hum Mol Genet
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
Height 19,633 Japanese ancestry individuals NA 13q31.3 GPC5 MIR92A1 - GPC5 rs8002779-A 0.48 3 x 10-6 .05 [0.03-0.07] cm decrease Illumina
12/24/08 Gieger C
November 28, 2008
PLoS Genet
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
Metabolite levels 284 European ancestry male individuals NA 13q31.3 GPC5 GPC5 rs17267292-? intron 0.28 1 x 10-7 (Docosahexaonic acid) NR Affymetrix
01/16/09 Baranzini SE
November 14, 2008
Hum Mol Genet
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
Multiple sclerosis 978 European ancestry cases, 883 European ancestry controls NA 13q31.3 GPC5 GPC5 rs9523762-? intron 0.35 1 x 10-6 1.36 [NR] Illumina

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