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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
01/07/14 Berndt SI
June 16, 2013
Nat Genet
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
Chronic lymphocytic leukemia 2,179 European ancestry cases, 6,221 European ancestry controls 1,709 European ancestry cases, 6,318 European ancestry controls View full set of 21 SNPs Illumina
[549,934]
N
11q24.1 SCN3B GRAMD1B rs735665-A intron 0.19 4 x 10-39 1.62 [NR]
2q37.1 SP140 SP110; SP140 rs13397985-G nearGene-5;intron 0.18 1 x 10-22 1.45 [NR]
6p25.3 IRF4 IRF4 rs872071-G ncRNA 0.51 6 x 10-20 1.33 [NR]
2q13 ACOXL, BCL2L11 ACOXL rs13401811-G intron 0.81 2 x 10-18 1.41 [1.30-1.52]
15q23 RPLP1 RPLP1 - GEMIN8P1 rs7176508-A 0.39 1 x 10-17 1.32 [NR]
2q13 ACOXL ACOXL rs17483466-G intron 0.2 4 x 10-17 1.37 [NR]
16q24.1[rs391023]; 16q24.1[rs2292982] IRF8 NA rs391023-G 0.63 5 x 10-17 1.33 [NR]
10q23.31 ACTA2, FAS FAS rs4406737-G intron 0.57 1 x 10-14 1.27 [1.19-1.33]
15q21.3[rs11636802]; 15q21.3[rs7169431] MNS1, RFXDC2 NA rs11636802-G 0.11 2 x 10-13 1.41 [NR]
18q21.33 BCL2 BCL2 rs4987855-G UTR-3 0.91 3 x 10-12 1.47 [1.32-1.61]




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