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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
10/16/09 Rivadeneira F
October 04, 2009
Nat Genet
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
Bone mineral density (hip) 19,195 European ancestry individuals NA View full set of 13 SNPs Affymetrix & Illumina
[2,543,686](imputed)
N
5q14.3 MEF2C MEF2C-AS1 - MIR3660 rs1366594-C 0.45 1 x 10-13 .09 [0.07-0.11] s.d. decrease
1p31.3 GPR177 WLS; GNG12-AS1 rs2566755-C intron;intron 0.21 2 x 10-12 .1 [0.07-0.13] s.d. increase
7q21.3 FLJ42280 C7orf76 rs7781370-T nearGene-5 0.34 5 x 10-12 .08 [0.06-0.10] s.d. decrease
6q25.1 ESR1 ESR1 rs2941740-G nearGene-5 0.43 2 x 10-10 .07 [0.05-0.09] s.d. increase
11p15.2 SOX6 LOC102724957 rs7117858-G intron 0.20 6 x 10-10 .09 [0.06-0.12] s.d. increase
3p22.1 CTNNB1 RPS27P4 - MRPS31P1 rs87938-A 0.45 8 x 10-10 .07 [0.05-0.09] s.d. decrease
11p11.2 ARHGAP1 ARHGAP1; ZNF408 rs7932354-T nearGene-5;nearGene-5 0.29 4 x 10-9 .07 [0.05-0.09] s.d. increase
8q24.12 TNFRSF11B COLEC10 rs11995824-G intron 0.55 7 x 10-9 .07 [0.05-0.09] s.d. decrease
17q21.31 HDAC5 HDAC5 rs228769-G intron 0.20 2 x 10-8 .08 [0.05-0.11] s.d. increase
1p36.12 ZBTB40 MIR4418 - ZBTB40 rs6426749-C 0.17 9 x 10-8 .08 [0.05-0.11] s.d. increase
10/16/09 " Bone mineral density (spine) 19,195 European ancestry individuals NA View full set of 16 SNPs Affymetrix & Illumina
[2,543,686](imputed)
N
13q14.11 AKAP11 FABP3P2 - TNFSF11 rs9533090-T 0.50 5 x 10-25 .12 [0.10-0.14] s.d. decrease
8q24.12 TNFRSF11B COLEC10 rs2062377-T intron 0.44 4 x 10-16 .09 [0.07-0.11] s.d. increase
1p31.3 GPR177 WLS; GNG12-AS1 rs1430742-C intron;intron 0.21 3 x 10-13 .11 [0.07-0.14] s.d. increase
6q25.1 ESR1 ESR1 rs2504063-A intron 0.40 6 x 10-11 .08 [0.06-0.10] s.d. decrease
7q21.3 FLJ42280 C7orf76 rs4729260-G intron 0.32 2 x 10-10 .08 [0.05-0.11] s.d. decrease
1p36.12 ZBTB40 MIR4418 - ZBTB40 rs7524102-G 0.17 3 x 10-10 .09 [0.06-0.12] s.d. increase
7p14.1 STARD3NL EPDR1 - STARD3NL rs1524058-T 0.40 1 x 10-9 .07 [0.05-0.09] s.d. decrease
11p13 DCDC5 DCDC5 - DCDC1 rs16921914-A 0.27 2 x 10-9 .08 [0.05-0.11] s.d. increase
18q21.33 TNFRSF11A TNFRSF11A rs884205-A UTR-3 0.27 9 x 10-9 .08 [0.05-0.11] s.d. decrease
12q13.13 SP7 SP7 rs2016266-G intron 0.32 1 x 10-8 .07 [0.05-0.09] s.d. increase




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