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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
03/25/14 Shameer K
September 12, 2013
Hum Genet
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
Mean platelet volume 6,291 European ancestry individuals NA View full set of 11 SNPs Illumina
[476,395]
N
12q24.31 WDR66, TMEM120B, SETD1B, PSMD9, BCL7A WDR66 rs7961894-T intron 0.89 6 x 10-38 .31 [NR] unit decrease
3p14.3 ARHGEF3 ARHGEF3 rs1354034-C intron 0.61 9 x 10-34 .19 [NR] unit decrease
7q22.3 FLJ36031, PIK3CG CCDC71L - RNA5SP236 rs342293-C 0.56 5 x 10-22 .15 [NR] unit decrease
10q21.3 JMJD1C, NRBF2, REEP3 JMJD1C rs7075195-A intron NR 3 x 10-18 .13 [NR] unit increase
1q32.1 TMCC2, CNTN2, RBBP5, RIPK5 TMCC2 - NUAK2 rs9660992-A 0.57 3 x 10-13 .11 [NR] unit increase
17q11.2 TAOK1 TAOK1 rs9900280-G intron 0.52 1 x 10-10 .1 [NR] unit increase
12q13.13 COPZ1, NFE2 NFE2 rs10506328-C intron 0.64 2 x 10-9 .09 [NR] unit decrease
1q24.3 DNM3 DNM3 rs10914144-T intron NR 2 x 10-8 .11 [NR] unit increase
4p16.1 KIAA0232 KIAA0232 - TBC1D14 rs11734132-G NR 6 x 10-7 .1 [NR] unit increase
2p23.1 EHD3 EHD3 rs649729-A intron NR 4 x 10-6 .07 [NR] unit decrease
03/25/14 " Platelet counts 13,582 European ancestry individuals NA 3p14.3 ARHGEF3 ARHGEF3 rs1354034-T intron 0.61 6 x 10-24 7.97 [NR] unit increase Illumina
[476,395]
N
11p15.5 BET1L, PSMD13, SIRT3, RIC8A, ODF3, SCGB1C1 BET1L rs11602954-G intron 0.78 5 x 10-12 6.46 [NR] unit decrease
12q24.12 SH2B3, ATXN2 SH2B3 rs3184504-C missense 0.5 5 x 10-11 5.33 [NR] unit decrease
6q23.3 HBS1L, MYB MIR3662 - MYB rs9399137-T NR 8 x 10-10 5.51 [NR] unit decrease
9p24.1 RCL1 RCL1 rs423955-A nearGene-5 0.66 1 x 10-9 4.94 [NR] unit increase
6p21.31 BAK1 BAK1 rs210134-A nearGene-3 NR 6 x 10-8 4.66 [NR] unit increase
10q21.3 JMJD1C JMJD1C rs10761731-A intron NR 2 x 10-6 3.81 [NR] unit decrease
18q11.2 CABLES1 CABLES1 rs11082304-T intron NR 5 x 10-6 3.49 [NR] unit decrease




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