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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
10/11/11 Wain LV
September 11, 2011
Nat Genet
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Blood pressure 74,064 European ancestry individuals 48,607 European ancestry individuals View full set of 14 SNPs Affymetrix, Illumina, and Perlegen
[NR] (imputed)
N
17q21.32 GOSR2 GOSR2 rs17608766-T intron 0.91 6 x 10-15 (Pulse Pressure) .534 [0.40-0.67] mmHg decrease
7q22.3 PIK3CG CCDC71L - RNA5SP236 rs17477177-T 0.72 2 x 10-13 (Pulse Pressure) .418 [0.31-0.53] mmHg decrease
11q24.3 ADAMTS-8 DDX18P5 - ADAMTS8 rs11222084-T 0.38 2 x 10-11 (Pulse Pressure) .337 [0.24-0.44] mmHg increase
10q24.32 CYP17A1, NT5C2 CNNM2 - NT5C2 rs11191548-T 0.94 8 x 10-11 (Pulse Pressure) .529 [0.37-0.69] mmHg increase
12q21.33 ATP2B1 ATP2B1 rs17249754-G intron 0.89 6 x 10-10 (Pulse Pressure) .392 [0.27-0.52] mmHg increase
8q24.12 NOV NOV rs2071518-T UTR-3 0.17 4 x 10-9 (Pulse Pressure) .312 [0.21-0.41] mmHg increase
10q23.33 PLCE-1 PLCE1 rs9663362-G intron 0.53 5 x 10-9 (Pulse Pressure) .271 [0.18-0.36] mmHg decrease
5p13.3 NPR3, C5orf23 NPR3 - RPS8P8 rs1173771-G 0.53 5 x 10-9 (Pulse Pressure) .276 [0.18-0.37] mmHg increase
4q12 CHIC2 LNX1-AS2 - RPL21P44 rs871606-T 0.85 1 x 10-8 (Pulse Pressure) .429 [0.28-0.58] mmHg increase
2q24.3 FIGN FIGN - PRPS1P1 rs13002573-G 0.20 2 x 10-8 (Pulse Pressure) .31 [0.20-0.42] mmHg decrease
10/11/11 " Blood pressure 74,064 European ancestry individuals 48,607 European ancestry individuals View full set of 27 SNPs Affymetrix, Illumina, and Perlegen
[NR] (imputed)
N
12q24.12 ATXN2 ATXN2 rs653178-T intron 0.59 7 x 10-20 (Mean Arterial Pressure) .429 [0.34-0.52] mmHg decrease
10q21.2 C10orf107 C10orf107 rs4590817-G intron 0.83 2 x 10-18 (Mean Arterial Pressure) .576 [0.45-0.71] mmHg increase
12q21.33 ATP2B1 ATP2B1 rs17249754-G intron 0.89 1 x 10-17 (Mean Arterial Pressure) .557 [0.43-0.69] mmHg increase
10p12.31 CACNB2 CACNB2 rs12258967-G intron 0.36 2 x 10-16 (Mean Arterial Pressure) .431 [0.33-0.53] mmHg decrease
1p36.22 MTHFR, NPPB MTHFR rs17367504-G intron 0.17 2 x 10-16 (Mean Arterial Pressure) .534 [0.40-0.66] mmHg decrease
10q24.33 CYP17A1, NT5C2 NT5C2 rs11191593-T intron 0.94 1 x 10-15 (Mean Arterial Pressure) .66 [0.50-0.82] mmHg increase
15q24.1 CSK CSK rs1378942-C intron 0.33 2 x 10-15 (Mean Arterial Pressure) .386 [0.29-0.48] mmHg increase
4q21.21 FGF5 PRDM8 - FGF5 rs1458038-T 0.30 3 x 10-14 (Mean Arterial Pressure) .403 [0.30-0.51] mmHg increase
3q26.2 MECOM MECOM rs419076-T intron 0.44 8 x 10-13 (Mean Arterial Pressure) .34 [0.25-0.43] mmHg increase
20q13.32 GNAS, EDN3 ZNF831 rs6015450-G intron 0.07 2 x 10-12 (Mean Arterial Pressure) .521 [0.38-0.67] mmHg increase




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