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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
06/06/13 Ramanan VK
February 19, 2013
Mol Psychiatry
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
Alzheimer's disease biomarkers 555 European ancestry individuals NA 19q13.32 PVRL2 PVRL2 rs6857-T UTR-3 0.28 1 x 10-10 (Cortical Ab) NR Illumina
[6,108,668] (imputed)
N
04/19/13 Holliday EG
January 11, 2013
PLoS One
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
Age-related macular degeneration 3,772 European ancestry cases, 16,033 European ancestry controls 264 Asian ancestry cases, 3,926 Asian ancestry controls 19q13.32 PVRL2 PVRL2 rs6857-? UTR-3 0.85 1 x 10-6 (EA) 1.23 [1.14-1.35] Illumina & Affymetrix
[~2.5 million] Imputed
N
19q13.32 PVRL2,APOE,TOMM40 PVRL2 rs6857-? UTR-3 0.85 1 x 10-6 1.23 [1.14-1.35]
01/06/12 Logue MW
December 01, 2011
Arch Neurol
A comprehensive genetic association study of Alzheimer disease in African Americans.
Alzheimer's disease 513 African American cases, 496 African American controls NA 19q13.32 PVRL2 PVRL2 rs6859-A intron NR 5 x 10-7 1.58 [NR] Illumina
[2,505,093] (imputed)
N
11/19/11 Kamboh MI
October 18, 2011
Mol Psychiatry
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
Alzheimer's disease (age of onset) 1,440 European ancestry cases, 782 cases NA 19q13.32 PVRL2 PVRL2 rs6857-? UTR-3 NR 2 x 10-10 NR Illumina
[2,543,888] (imputed)
N
10/11/11 Kim YJ
September 11, 2011
Nat Genet
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
HDL cholesterol 12,545 Korean ancestry individuals Up to 30,395 East Asian ancestry individuals 19q13.32 PVRL2, TOMM40, APOE PVRL2 rs519113-C intron 0.15 8 x 10-11 .0179 [0.012-0.023] mg/dL decrease Affymetrix
[~2.2 million] (imputed)
N
10/14/10 Naj AC
September 23, 2010
PLoS Genet
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
Alzheimer's disease (late onset) 931 cases, 1,104 controls 1,338 cases, 2,003 controls 19q13.32 PVRL2 PVRL2 rs6859-A intron 0.46 1 x 10-7 1.41 [1.24-1.60] Illumina
[483,399]
N
11/25/08 Abraham R
September 29, 2008
BMC Med Genomics
A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
Alzheimer's disease 1,082 European ancestry cases, 1,239 European ancestry controls 1,400 controls 19q13.32 PVRL2, TOMM40, APOE PVRL2 rs6859-A intron NR 6 x 10-14 NR Illumina
[561,494] (pooled)
N




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