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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
03/28/13 Lu Y
January 06, 2013
Nat Genet
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Corneal structure 13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals NA View full set of 26 SNPs Illumina & Affymetrix
[~1 Million] (Imputed)
N
16q24.2 BANP, ZNF469 BANP - ZNF469 rs9938149-A 0.62 2 x 10-49 .17 [0.15-0.19] unit increase
9q34.3 RXRA, COL5A1 MIR4669 - COL5A1 rs1536482-A 0.34 3 x 10-22 .12 [0.1-0.14] unit decrease
15q26.3 LRRK1 LRRK1 rs930847-T intron 0.77 6 x 10-19 .11 [0.071-0.149] unit decrease
13q14.11 FOXO1 LOC100289058 rs2721051-T 0.11 4 x 10-14 .17 [0.13-0.21] unit decrease
15q25.3 AKAP13 ADAMTS7P4 - AKAP13 rs6496932-A 0.2 7 x 10-13 .11 [0.071-0.149] unit decrease
6q14.1 FAM46A, IBTK FAM46A - IBTK rs1538138-T 0.25 1 x 10-12 .07 [0.031-0.109] unit decrease
3q26.31 FNDC3B FNDC3B rs4894535 -T intron 0.17 5 x 10-12 .1 [0.061-0.139] unit decrease
9q34.3 COL5A1 COL5A1 rs7044529-T intron 0.15 5 x 10-12 .13 [0.091-0.169] unit decrease
9q31.3 LPAR1 LPAR1 rs1007000-T intron 0.22 5 x 10-12 .07 [0.031-0.109] unit increase
9q34.3 LCN12, PTGDS LCN12 - PTGDS rs11145951-T 0.49 6 x 10-12 .09 [0.07-0.11] unit increase




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