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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
02/08/14 Wang H
July 29, 2013
Pediatrics
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
Bronchopulmonary dysplasia 117 African American newborn cases, 108 African American newborn controls, 448 Hispanic newborn cases, 460 Hispanic newborn controls, 74 Asian or Pacific Islander ancestry newborn cases, 93 Asian or Pacific Islander ancestry newborn control, 174 European ancestry newborn cases, 216 European ancestry newborn controls, 14 newborn cases, 22 newborn controls 371 newborn cases, 424 newborn controls 15q25.1 RASGRF1, LOC729911 RASGRF1 - MIR184 rs1474256-G 0.49 6 x 10-6 (Dominant model) 1.2048 [NR] Illumina
[1,795,103]
N
06/06/13 Verhoeven VJ
February 10, 2013
Nat Genet
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Refractive error 37,382 European ancestry individuals, 3,995 East Asian ancestry individuals, 2,273 Singaporean Malay ancestry individuals, 2,108 Singaporean Indian ancestry individuals NA 15q25.1 RASGRF1 RASGRF1 rs4778879-G intron 0.44 4 x 10-11 .102 [0.073-0.131] unit decrease Illumina & Affymetrix
[2.5 million] (imputed)
N
10/05/10 Hysi PG
September 12, 2010
Nat Genet
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.
Refractive error 4,270 European ancestry individuals 13,414 European ancestry individuals 15q25.1 RASGRF1 RASGRF1 - MIR184 rs939658-G 0.52 2 x 10-9 .15 [0.10-0.20] diopter decrease Illumina
[~2.2 million] (imputed)
N
12/29/09 Marroni F
August 01, 2009
Circ Cardiovasc Genet
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.
RR interval (heart rate) 2,325 European ancestry individuals NA 15q25.1 RASGRF1 RASGRF1 rs3743200-A intron 0.27 2 x 10-6 .16 [0.10-0.22] unit increase Illumina
[~318,327]
N




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