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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
12/11/12 Wu C
September 09, 2012
Nat Genet
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
Esophageal cancer (alcohol interaction) 2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls 8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls 2q35 IGFB2 PSMB3P2 - IGFBP2 rs9288520-? 0.34 4 x 10-11 1.33 [1.22-1.45] NR N
13q33.2 SLC10A2 ATP6V1G1P7 - RPL7P45 rs17450420-? 0.04 5 x 10-8 1.7 [1.41-2.06]
4q23 ADH1B ADH1B rs1042026-? UTR-3 0.22 3 x 10-7 1.27 [1.16-1.38]
4q23 ADH4 ADH4; LOC100507053 rs3805322-? intron;intron 0.51 6 x 10-7 1.23 [1.14-1.33]
12/11/12 " Esophageal cancer (squamous cell) 2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls 8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls 22q12.1 CHEK2 CHEK2 rs4822983-T intron 0.20 2 x 10-22 1.27 [1.21-1.34] NR N
16q12.1 HEATR3 HEATR3 rs4785204-T intron 0.26 2 x 10-20 1.24 [1.18-1.29]
17q21.2 HAP1 HAP1 - JUP rs6503659-A 0.13 3 x 10-16 1.27 [1.20-1.34]
22q12.1 XBP1 XBP1 rs2239815-T intron 0.37 4 x 10-15 1.18 [1.13-1.23]
3q27.3 ST6GAL1 ST6GAL1 rs2239612-T intron 0.19 6 x 10-14 1.21 [1.15-1.27]
18p11.21 PTPN2 PTPN2 rs2847281-C intron 0.16 2 x 10-11 1.2 [1.14-1.26]
17p13.3 SMG6 SMG6 rs17761864-A intron 0.14 2 x 10-11 1.21 [1.14-1.28]




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