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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
08/15/12 Manning AK
May 13, 2012
Nat Genet
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Fasting glucose-related traits (interaction with BMI) Up to 58,074 European ancestry individuals Up tp 38,422 European ancestry individuals View full set of 31 SNPs Affymetrix & Illumina
[~2.4 million] (imputed)
N
2q31.1 G6PC2 G6PC2 rs560887-? intron NR 2 x 10-113 NR
11q14.3 MTNR1B MTNR1B rs10830963-? intron NR 4 x 10-105 NR
7p13 GCK GCK - YKT6 rs4607517-? NR 8 x 10-56 NR
2p23.3 GCKR GCKR rs780094-? intron NR 4 x 10-24 NR
7p21.2 DGKB GTF3AP5 - AGMO rs2191349-? NR 3 x 10-21 NR
8q24.11 SLC30A8 SLC30A8 rs11558471-? UTR-3 NR 3 x 10-20 NR
2p23.2 MRPL33 MRPL33 rs3736594-? intron 1 x 10-15 NR
11p11.2 CRY2 CRY2 rs11605924-? intron NR 4 x 10-15 NR
10q25.2 TCF7L2 TCF7L2 rs7903146-? intron NR 2 x 10-14 NR
11q13.4 ARAP1 ARAP1 rs11603334-? intron 2 x 10-14 NR
08/15/12 " Fasting insulin-related traits (interaction with BMI) Up to 51,750 European ancestry individuals Up to 33,823 European ancestry individuals View full set of 20 SNPs Affymetrix & Illumina
[~2.4 million] (imputed)
N
13q11 TUBA3C ZNF965P - LINC00417 rs9552416-? 3 x 10-24 NR
2q24.3 COBLL1, GRB14 COBLL1 rs7607980-? missense 4 x 10-20 NR
2q36.3 IRS1 NYAP2 - MIR5702 rs2943634-? 2 x 10-14 NR
8p23.1 PPP1R3B LOC157273 rs4841132-? ncRNA 2 x 10-10 NR
2p23.3 GCKR GCKR rs780094-? intron NR 3 x 10-10 NR
12q23.2 IGF1 IGF1 - LINC00485 rs35747-? NR 1 x 10-9 NR
4q32.1 PDGFC PDGFC rs4691380-? intron 5 x 10-9 NR
3p26.3 CHL1 A1BG - CHL1 rs9841287-? 7 x 10-9 NR
1q41 LYPLAL1 RIMKLBP2 - ZC3H11B rs2785980-? 2 x 10-8 NR
6p21.31 UHRF1BP1 TAF11; UHRF1BP1 rs4646949-? nearGene-3;intron 4 x 10-8 NR




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