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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
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 16q22.3 ZFHX3 ZFHX3 rs879324-A intron 0.19 2 x 10-8 (CS) 1.25 [1.15-1.35] Affymetrix & Illumina
[NR] (imputed)
N
11/21/12 Inouye M
August 16, 2012
PLoS Genet
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
Metabolite levels 6,608 European ancestry individuals NA 16q22.2 ZFHX3 PMFBP1 - KRT18P18 rs10500569-? 0.23 7 x 10-12 NR Illumina
[~2 million] (imputed)
N
07/19/12 Ellinor PT
April 29, 2012
Nat Genet
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
Atrial fibrillation 6,707 European ancestry cases, 52,426 European ancestry controls 5,381 European ancestry casses, 10,030 European ancestry controls 16q22.3 ZFHX3 ZFHX3 rs2106261-T intron 0.176 3 x 10-16 1.24 [1.17-1.30] Affymetrix & Illumina
[~2.5 million] (imputed)
N
04/07/11 Lettre G
February 10, 2011
PLoS Genet
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
Coronary heart disease 8,090 African American individuals 8,849 African American or African-Caribbean ancestry individuals 16q22.3 ZFHX3 ZFHX3 rs16971384-A intron 0.55 5 x 10-6 (LDL-C) .0715 [0.04-0.10] SD decrease Affymetrix
[~2.74 million] (imputed)
N
08/04/09 Benjamin EJ
July 13, 2009
Nat Genet
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.
Atrial fibrillation 3,413 cases, 37,105 referents 2,145 cases, 4,073 controls 16q22.3 ZFHX3 ZFHX3 rs2106261-T intron 0.174 2 x 10-15 1.25 Affymetrix & Illumina
[~2.5 million] (imputed)
N
07/30/09 Gudbjartsson DF
July 13, 2009
Nat Genet
A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.
Atrial fibrillation 2,385 European ancestry cases, 33,752 European ancestry controls up to 2,427 European ancestry cases, 3,379 European ancestry controls, 286 Han Chinese ancestry cases, 2,763 Han Chinese ancestry controls 16q22.3 ZFHX3 ZFHX3 rs7193343-T intron NR 1 x 10-10 1.21 [1.14-1.29] Illumina
[303,136]
N
01/21/09 Burgner D
January 09, 2009
PLoS Genet
A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
Kawasaki disease 107 European ancestry cases, 134 European ancestry controls 583 European ancestry cases, 1,357 European ancestry controls from 583 families 16q22.3 ZFHX3 ZFHX3 rs7199343-T intron 0.30 2 x 10-6 1.56 [1.33-1.92] Affymetrix
[223,922]
N




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