Skip to main content
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
01/31/14 van Meurs JB
July 03, 2013
Am J Clin Nutr
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
Homocysteine levels 44,147 European ancestry individuals NA View full set of 18 SNPs Affymetrix & Illumina
[2,090,256] (Imputed)
N
1p36.22 MTHFR MTHFR rs1801133-A missense 0.34 4 x 10-104 .1583 [0.14-0.17] unit increase
16q24.3 DPEP1 DPEP1 - CHMP1A rs154657-A 0.47 2 x 10-43 .0963 [0.083-0.11] unit increase
2q34 CPS1 CPS1 rs7422339-A* missense 0.33 5 x 10-27 .0864 [0.071-0.102] unit increase
21q22.3 CBS CBS rs234709-T intron 0.45 4 x 10-24 .0718 [0.058-0.086] unit decrease
1p36.22 MTHFR C1orf167; LOC102724659 rs12134663-A intron;intron 0.8 3 x 10-21 .101 [0.079-0.123] unit decrease
11q14.3 NOX4 NOX4 rs7130284-T intron 0.07 2 x 10-20 .1242 [0.099-0.15] unit decrease
12q24.31 HNF1A RPL12P33 - HNF1A-AS1 rs2251468-A 0.65 1 x 10-12 .0512 [0.037-0.065] unit decrease
21q22.3 CBS CBS rs2851391-T intron 0.47 2 x 10-12 .056 [0.04-0.072] unit increase
16q24.3 DPEP1, FANCA FANCA rs12921383-T intron 0.87 8 x 10-11 .09 [0.063-0.117] unit decrease
6p12.3 MUT TRNAI25 rs9369898-A 0.62 2 x 10-10 .0449 [0.031-0.059] unit increase




Top of page

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