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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
12/01/13 Rietveld CA
May 30, 2013
Science
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
Educational attainment up to 126,559 European ancestry individuals NA 2q37.2 LOC100128572 ASB18 rs13401104-? intron 0.82 5 x 10-9 (College) 1.1 [NR] Illumina, Affymetrix, Perlegen
[up to 2,321,8963] (Imputed)
N
6p22.2 BTN1A1 BTN1A1 rs1056667-T UTR-3 0.538 2 x 10-8 (Edu Years) .093 [NR] unit increase
2q37.2 GBX2 TMSB10P1 - GBX2 rs11687170-T 0.770 3 x 10-8 (Edu Years) .107 [NR] unit increase
2q24.2 TANK TANK; LOC101929512 rs7309-A UTR-3;intron 0.476 4 x 10-8 (Edu Years) .088 [NR] unit decrease
11/29/13 " Educational attainment up to 101,069 European ancestry individuals 25,490 European ancestry individuals 1q32.1 LRRN2 MDM4 rs11584700-? intron 0.22 8 x 10-12 (College) 1.09 [NR] Illumina, Affymterix, Perlegen
[up to 2,309,290] (Imputed)
N
2q11.2 LOC150577 AFF3 - LINC01104 rs4851266-T 0.396 5 x 10-11 (College) 1.05 [NR]
6q16.1 LOC100129158 MIR2113 - EIF4EBP2P3 rs9320913-A 0.483 4 x 10-10 (Edu Years) .101 [NR] unit increase
13q32.2 STK24 STK24 rs3783006-C intron 0.454 8 x 10-8 (Edu Years) .088 [NR] unit increase
16p11.2 ATXN2L ATXN2L rs8049439-T intron 0.581 1 x 10-7 (Edu Years) .086 [NR] unit increase
2q33.1 PLCL1 PLCL1 - SATB2 rs2054125-T 0.064 2 x 10-7 (College) 1.376 [NR]
6p21.31 ITPR3 ITPR3 rs3227-C intron 0.498 3 x 10-7 (College) 1.037 [NR]
7q22.2 LHFPL3 LHFPL3; LOC102724284 rs4073894-A intron;nearGene-5 0.207 6 x 10-6 (College) 1.062 [NR]
4q34.2 GPM6A GPM6A rs12640626-A intron 0.58 7 x 10-6 (College) 1.034 [NR]




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