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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 Levy D
September 19, 2007
BMC Med Genet
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
Blood pressure Up to 1,327 individuals NA 16q23.3 CDH13 CDH13 rs3096277-? intron NR 1 x 10-9 (SBPLTA) NR Affymetrix
[70,897]
N
2q36.3 CCL20, WDR69 CCL20 - TDGF1P2 rs7591163-? NR 3 x 10-7 (DBPLTA) NR
1p31.3 Intergenic ATG4C - LINC00466 rs10493340-? NR 2 x 10-6 (SBP) NR
14q24.3 Intergenic IFT43 - GPATCH2L rs935334-? NR 3 x 10-6 (DBP) NR
8q13.3 Intergenic TRPA1 - RNA5SP271 rs1963982-? NR 3 x 10-6 (DBP) NR
3p26.3 CNTN4 CNTN4 rs4370013-? intron NR 4 x 10-6 (DBP) NR
5q22.1 CAMK4 CAMK4 rs10491334-? intron NR 4 x 10-6 (DBP) NR
14q24.3 C14orf118 GPATCH2L rs2121070-? intron NR 5 x 10-6 (DBP) NR
6q15 Intergenic AKIRIN2 - SPACA1 rs2509458-? NR 7 x 10-6 (DBP) NR
11/25/08 " Tonometry 644 individuals NA View full set of 13 SNPs Affymetrix
[70,897]
N
3p24.1 TGFBR2 TGFBR2 rs3773643-? intron NR 2 x 10-7 (MAPLTA) NR
20q13.13 PREX1 PREX1 rs6063312-? intron NR 2 x 10-6 (RW) NR
8p22 VPS37A VPS37A rs3793427-? intron NR 2 x 10-6 (FWLTA) NR
13q31.3 GPC6 GPC6 rs6492654-?* intron NR 2 x 10-6 (RWLTA) NR
2q14.3 CNTNAP5 CNTNAP5 rs1367248-? intron NR 3 x 10-6 (CF-PWVLTA) NR
5q14.3 MEF2C MEF2C rs770189-? intron NR 3 x 10-6 (CB-PWV) NR
17p12 HS3ST3A1 MIR548H3 - CDRT15P1 rs10521232-? NR 4 x 10-6 (CF-PWVLTA) NR
1q25.1 TNR TNR rs3766680-? intron NR 4 x 10-6 (FWLTA) NR
3q24 SLC9A9 SLC9A9 rs1371924-? intron NR 4 x 10-6 (RWLTA) NR
3p22.3 Intergenic LOC101928135 rs10514688-? intron NR 6 x 10-6 (CB-PWV) NR




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