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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
01/15/15 Simino J
June 19, 2014
Am J Hum Genet
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
Blood pressure 55,796 European ancestry individuals 43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals View full set of 28 SNPs Illumina & Affymetrix
[~2.5 million] (Imputed)
N
4q21.21 PRDM8, FGF5 PRDM8 - FGF5 rs11099098-T 2 x 10-11 (EA, SBP, Age 50-59) .97 [0.7-1.24] mmHg increase
10q24.32 AS3MT AS3MT; C10orf32-ASMT rs12416687-T nearGene-5;intron 4 x 10-9 (EA, MAP, Age 50-59) .59 [0.39-0.79] mmHg decrease
3q26.1 MIR1263 RNU7-82P - MIR1263 rs16833934-G 0.26 1 x 10-8 (EA, DBP, Age 20-29) 1.63 [1.06-2.2] mmHg decrease
12q21.33 POC1B,ATP2B1 POC1B-GALNT4 - ATP2B1 rs4842666-T 4 x 10-8 (EA, MAP, Age 40-49) .71 [0.46-0.96] mmHg increase
4q21.21 PRDM8, FGF5 PRDM8 - FGF5 rs11099098-T 9 x 10-8 (EA, PP, Age 50-59) .52 [0.32-0.72] mmHg increase
12q21.33 POC1B,ATP2B1 POC1B-GALNT4 - ATP2B1 rs4842666-T 2 x 10-7 (EA, SBP, Age 40-49) .91 [0.58-1.24] mmHg increase
17p13.3 NXN NXN rs747687-G intron 0.86 2 x 10-7 (EA, DBP, Age 60-69) 1.37 [0.86-1.88] mmHg increase
2p25.2 LINC01249 LINC01249 - LINC01248 rs825937-C 0.83 2 x 10-7 (EA, PP, Age 40-49) .83 [0.52-1.14] mmHg increase
5p13.3 NPR3 NPR3 rs1421811-G intron 2 x 10-7 (EA, SBP, Age 50-59) .69 [0.44-0.94] mmHg decrease
10q24.2 SFRP5,GOLGA7B SFRP5 - LINC00866 rs11816631-G 0.06 3 x 10-7 (EA, PP, Age 40-49) 1.99 [1.23-2.75] mmHg increase
01/15/15 " Blood pressure (age interaction) 55,796 European ancestry individuals 43,445 European ancestry individuals, 1,849 Chinese ancestry individuals, 2,502 Malay ancestry individuals, 2,476 Asian Indian ancestry individuals, 1,855 Asian ancestry individuals 11q13.1 EHBP1L1 EHBP1L1 rs4601790-G intron 0.27 3 x 10-7 (EA, MAP) .022 [0.014-0.03] mmHg decrease per 1 year increase in age Illumina & Affymetrix
[~2.5 million] (Imputed)
N
11q13.1 EHBP1L1 EHBP1L1 rs4601790-G intron 0.27 6 x 10-7 (EA, DBP) .0197 [0.012-0.028] mmHg decrease per 1 year increase in age
18p11.22 RAB31 RAB31 rs7233332-G intron 0.61 6 x 10-6 (EA, PP) .0232 [0.013-0.033] mmHg increase per 1 year increase in age




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