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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
11/25/08 Yang Q
September 19, 2007
BMC Med Genet
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
Factor VII 886 European ancestry individuals NA 13q34 MCF2L, AB116074, AK092739, AK123267, AB002360, F7, CR603372, F10, PROZ F7 rs561241-? nearGene-5 0.12 5 x 10-16 NR Affymetrix
[70,897]
N
7p22.2 Intergenic RPL21P72 - FOXK1 rs10488360-? 0.30 7 x 10-6 NR
1p36.32 Intergenic LINC01134 - AJAP1 rs966321-? 0.47 8 x 10-6 NR
3p26.1 Intergenic GRM7 - LMCD1-AS1 rs4591494-? 0.19 9 x 10-6 NR
11/25/08 " Hemostatic factors and hematological phenotypes Up to 1,062 European ancestry individuals NA View full set of 18 SNPs Affymetrix
[70,897]
N
11q12.1 OR5AP2, OR5AR1, OR9G1, OR9G4 OR9G1 rs1397048-? nearGene-5 0.4 7 x 10-8 (MCH) NR
14q21.3 MAMDC1 MDGA2 rs7159841-? intron 0.21 2 x 10-7 (Viscosity) NR
1q23.2 OR10J1,OR10J5 OR10J4 - OR10J5 rs4133289-? 0.19 2 x 10-7 (Hgb) NR
2p16.2 Intergenic MIR4431 - ASB3 rs1160297-? 0.43 1 x 10-6 (Hgb) NR
1p31.1 NEGR1 NEGR1 rs10493485-? intron 0.29 2 x 10-6 (tPA) NR
8q24.13 Intergenic HAS2-AS1 - MRPS36P3 rs7844723-? 0.45 2 x 10-6 (Hgb) NR
5q21.3 Intergenic PGAM5P1 - TMEM232 rs4460176-? 0.29 3 x 10-6 (PAI-1) NR
11q24.1 Intergenic MIR100 - TRNAK27 rs565229-? 0.10 4 x 10-6 (pltcoll) NR
1p34.3 FLJ11730, BC016328 MEAF6 rs9253-? ncRNA 0.18 4 x 10-6 (RBCC) NR
12q14.2 Intergenic LDHAL6CP - RSL24D1P5 rs10506458-? 0.13 5 x 10-6 (pltcoll) NR




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