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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  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

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.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

 

 

 

 





Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

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]
Platform
[SNPs passing QC]
CNV
10/17/14 Cho MH
February 07, 2014
Lancet Respir Med
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
Chronic obstructive pulmonary disease (moderate to severe) 5,812 European ancestry cases, 3,955 European ancestry controls, 821 African American cases, 1,749 African American controls 2,651 cases and their relatives 4q22.1 FAM13A FAM13A rs4416442-C intron 0.42 1 x 10-14 1.28 [1.20-1.36] Illumina
[up to 701,491] (imputed)
N
10/17/14 " Chronic obstructive pulmonary disease (severe) 3,145 European ancestry cases, 3,955 European ancestry controls, 352 African American cases, 1,749 African American controls 2,651 cases and their relatives 4q22.1 FAM13A FAM13A rs4416442-C intron 0.42 9 x 10-15 1.36 [1.26-1.47] Illumina
[up to 701,491] (imputed)
N
05/12/14 Willer CJ
October 06, 2013
Nat Genet
Discovery and refinement of loci associated with lipid levels.
HDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 4q22.1 FAM13A FAM13A rs3822072-A intron 0.46 4 x 10-12 .025 [NR] unit decrease NR (Imputed) N
11/01/13 Fingerlin TE
April 14, 2013
Nat Genet
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.
Interstitial lung disease 1,161 European ancestry cases, 4,683 European ancestry controls 876 European ancestry cases, 1,890 European ancestry controls 4q22.1 FAM13A FAM13A rs2609255-G intron 0.21 2 x 10-11 1.29 [1.18-1.42] Illumina
[439,828]
N
02/27/13 Hancock DB
December 20, 2012
PLoS Genet
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
Pulmonary function (interaction) 50,047 European ancestry individuals NA 4q22.1 FAM13A FAM13A rs2869967-? intron NR 5 x 10-11 (FEV1/FVC, Ever-smoking) NR NR
[~2.5 Million] (imputed)
N
12/15/11 Cho MH
November 11, 2011
Hum Mol Genet
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
Chronic obstructive pulmonary disease 3,499 European ancestry cases, 1,922 European ancestry controls 983 cases, 1,876 sibling controls 4q22.1 FAM13A FAM13A rs1964516-? intron NR 2 x 10-9 1.37 [1.23-1.52] Illumina
[797,983]
N
03/17/10 Cho MH
February 21, 2010
Nat Genet
Variants in FAM13A are associated with chronic obstructive pulmonary disease.
Chronic obstructive pulmonary disease 2,940 European ancestry cases, 1,380 European ancestry controls 502 European ancestry cases, 504 European ancestry controls, 1,110 cases, 2,698 controls 4q22.1 FAM13A FAM13A rs7671167-? intron 0.48 1 x 10-11 1.32 [1.19-1.47] Illumina
[499,578]
N
01/13/10 Hancock DB
December 13, 2009
Nat Genet
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
Pulmonary function 20,890 European ancestry individuals 16,178 European ancestry individuals 4q22.1 FAM13A FAM13A rs2869967-T intron 0.61 1 x 10-7 (FEV1/FVC) .3 [NR] % increase Affymetrix & Illumina
[2,534,500] (imputed)
N




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