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NIH

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
08/20/13 den Hoed M
April 14, 2013
Nat Genet
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
Heart rate 85,787 European ancestry individuals, 6,568 Indian Asian ancestry indiviudals 88,823 European ancestry individuals View full set of 32 SNPs Illumina and Affymetrix
[2,516,789] (Imputed)
N
14q11.2 MYH6 MYH6 rs365990-G missense 0.353 5 x 10-45 .564 [0.47-0.66] unit increase
6q22.31 GJA1 RPL23AP48 - HMGB3P18 rs1015451-C 0.102 1 x 10-33 .713 [0.57-0.85] unit increase
20q11.23 KIAA1755 KIAA1755 rs6127471-C intron 0.54 5 x 10-29 .429 [0.34-0.52] unit increase
7q22.1 ACHE ACHE - RPS29P15 rs13245899-G 0.195 8 x 10-27 .447 [0.34-0.55] unit increase
1q32.2 CD46 CD46 rs11118555-A intron 0.124 4 x 10-26 .612 [0.48-0.75] unit increase
2q31.2 CCDC141 CCDC141 rs17362588-A missense 0.114 4 x 10-26 .736 [0.59-0.89] unit increase
12p11.1 SYT10 SYT10 rs7980799-A intron 0.401 6 x 10-24 .377 [0.29-0.47] unit increase
11q12.2 FADS1 FADS1 rs174549-A intron 0.31 1 x 10-22 .358 [0.27-0.45] unit increase
6q22.31 SLC35F1 RPL29P4 - CEP85L rs11153730-T 0.509 8 x 10-21 .381 [0.29-0.47] unit increase
12p12.1 LINC00477,C12orf67 KNOP1P1 - RPL21P102 rs17287293-A 0.85 3 x 10-20 .444 [0.32-0.57] unit increase




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