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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
11/25/08 Gudbjartsson DF
April 06, 2008
Nat Genet
Many sequence variants affecting diversity of adult human height.
Height 30,968 European ancestry individuals 8,541 European ancestry individuals View full set of 52 SNPs Illumina and Affymetrix
[up to 304,226]
N
3q23 ZBTB38 ZBTB38 rs6763931-A intron 0.45 1 x 10-27 7.4 [6.03-8.77] % s.d. taller
12q14.3 HMGA2 HMGA2 rs8756-C UTR-3 0.52 2 x 10-16 6.6 [5.03-8.17] % s.d. taller
7p22.3 GNA12 AMZ1 - GNA12 rs798544-G 0.72 7 x 10-15 5.9 [6.03-8.77] % s.d. taller
6q24.1 GPR126 GPR126 rs3748069-A nearGene-3 0.74 5 x 10-14 6.5 [5.44-9.36] % s.d. taller
4q31.21 HHIP HHIP rs1812175-C intron 0.86 1 x 10-11 8.3 [5.95-10.65] % s.d. taller
6p24.3 BMP6 RPL29P1 - BMP6 rs12198986-A 0.50 2 x 10-11 6.8 [4.84-8.76] % s.d. taller
2p16.1 EFEMP1, PNPT1 EFEMP1 rs3791679-T intron 0.81 6 x 10-11 5.8 [4.04-7.56] % s.d. taller
14q32.12 TRIP11, FBLN5, ATXN3, CPSF2 FBLN5 - TRIP11 rs7153027-A 0.52 1 x 10-10 5.7 [3.94-7.46] % s.d. taller
1q21.2 Histone class 2A,MTMR11, SV2A, SF3B4 SV2A - SF3B4 rs11205277-G 0.44 1 x 10-10 5.1 [3.53-6.67] % s.d. taller
4p15.31 LCORL, NCAPG LCORL rs6830062-T intron 0.89 1 x 10-10 6.3 [4.34-8.26] % s.d. taller




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