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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
07/20/11 Aouizerat BE
June 10, 2011
BMC Cardiovasc Disord
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
Sudden cardiac arrest 88 European ancestry cases, 517 European ancestry controls NA 17q23.2 Intergenic MARCH10 rs2251393-? UTR-3 0.15 4 x 10-7 (Additive) 1.13 [1.08-1.18] Affymetrix
[319,222]
N
15q25.1 CHRNB4 CHRNB4 rs950776-? intron 0.68 4 x 10-7 (Additive) 1.09 [1.06-1.13]
12q24.32 Intergenic HSPE1P20 - FLJ37505 rs1823172-? 0.08 5 x 10-7 (Additive) 1.17 [1.10-1.25]
20q13.33 CDH4 CDH4 rs944260-? intron 0.24 2 x 10-6 (Additive) 1.1 [1.06-1.14]
6p12.3 Intergenic TRNAI25 rs190759-? 0.18 5 x 10-6 (Additive) 1.11 [1.06-1.16]
12q22 PLEKHG7 CLLU1 - C12orf74 rs10219495-? 0.10 5 x 10-6 (Additive) 1.14 [1.08-1.21]
07/20/11 " Sudden cardiac arrest 88 European ancestry cases, 517 European ancestry controls NA View full set of 37 SNPs Affymetrix
[319,222]
N
13q22.1 Intergenic KLF12 - RNY1P5 rs12429889-? 0.16 5 x 10-20 (Recessive) 1.64 [1.48-1.81]
12q21.2 Intergenic RPL10P13 - PHLDA1 rs7307780-? 0.19 5 x 10-15 (Recessive) 1.45 [1.33-1.59]
2q31.2 ZNF385B ZNF385B rs16866933-? intron 0.09 6 x 10-14 (Recessive) 1.69 [1.48-1.93]
11q21 Intergenic MAML2 rs10765792-? intron 0.11 8 x 10-13 (Recessive) 1.54 [1.37-1.72]
5q33.2 GRIA1 GRIA1 rs12189362-? intron 0.12 3 x 10-10 (Recessive) 1.5 [1.32-1.69]
6q25.1 ESR1 ESR1 rs2982694-? intron 0.14 7 x 10-10 (Recessive) 1.43 [1.28-1.60]
18q11.2 KCTD1 KCTD1 rs16942421-? intron 0.08 8 x 10-10 (Recessive) 1.68 [1.43-1.98]
18p11.31 Intergenic SCML2P1 - LAMA1 rs597503-? 0.13 2 x 10-8 (Recessive) 1.45 [1.27-1.65]
17q24.3 Intergenic CALM2P1 - CASC17 rs17718586-? 0.10 2 x 10-8 (Recessive) 1.53 [1.32-1.78]
14q31.3 Intergenic FLRT2 - GALC rs11624056-? 0.11 3 x 10-8 (Recessive) 1.43 [1.26-1.62]
07/20/11 " Sudden cardiac arrest 88 European ancestry cases, 517 European ancestry controls NA 14q32.2 DEGS2 DEGS2 rs7157599-? missense 0.31 1 x 10-7 (Dominant) 1.13 [1.08-1.19] Affymetrix
[319,222]
N
8q11.21 EFCAB1 EFCAB1 - SNAI2 rs12155623-? 0.57 3 x 10-7 (Dominant) 1.14 [1.09-1.20]
2q24.1 Intergenic ACVR1 - UPP2 rs10183640-? 0.35 5 x 10-7 (Dominant) 1.12 [1.08-1.18]
3q23 CLSTN2 CLSTN2 rs11708189-? intron 0.65 2 x 10-6 (Dominant) 1.12 [1.07-1.18]
1q24.3 FMO1 HMGB1P11 - FMO4 rs6660565-? 0.72 2 x 10-6 (Dominant) 1.12 [1.07-1.18]
12q21.33 DCN DCN - C12orf79 rs10777317-? 0.60 5 x 10-6 (Dominant) 1.12 [1.07-1.18]
12q23.1 Intergenic TRNAQ46P - RMST rs10777845-? 0.66 5 x 10-6 (Dominant) 1.12 [1.07-1.17]




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