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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. 


 

Sound file Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore  priorities and future directions for the GWAS catalog. See archived video and presentations.

The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsPDF file
Click here to read our recent article from the Nucleic Acids Research Database Issue.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsPDF file
Click here to read our Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.

 

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 listed here 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. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible.  Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending

How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].

How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

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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
05/12/14 Willer CJ
October 06, 2013
Nat Genet
Discovery and refinement of loci associated with lipid levels.
HDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 20q13.12 PLTP PLTP - PCIF1 rs6065906-C 0.19 5 x 10-40 .059 [NR] unit decrease NR (Imputed) N
05/12/14 " Triglycerides 94,595 European ancestry individuals 93,982 European ancestry individuals 20q13.12 PLTP PLTP - PCIF1 rs6065906-C 0.19 2 x 10-34 .053 [NR] mg/dL increase NR (Imputed) N
02/12/13 Jostins L
November 01, 2012
Nature
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Inflammatory bowel disease 12,924 European ancestry cases, 21,442 European ancestry controls 25,683 European ancestry cases, 17,015 European ancestry controls 20q13.12 CD40,MMP9,PLTP RPL13P2 - CD40 rs1569723-C 0.259 1 x 10-13 1.091 [1.056-1.126] Affymetrix & Illumina
[1.23 million](imputed)
N
11/21/12 Inouye M
August 16, 2012
PLoS Genet
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
Metabolite levels 6,608 European ancestry individuals NA 20q13.12 PLTP PLTP - PCIF1 rs4810479-? 0.27 2 x 10-42 NR Illumina
[~2 million] (imputed)
N
02/28/12 Kettunen J
January 29, 2012
Nat Genet
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
Lipid metabolism phenotypes 8,330 European ancestry individuals NA 20q13.12 PLTP PLTP rs6065904-? intron NR 2 x 10-31 (L-HDL-L/M-HDL-L) .22 [0.18-0.26] unit decrease Illumina
[~7.7 million] (imputed)
N
01/25/12 Teslovich TM
August 05, 2010
Nature
Biological, clinical and population relevance of 95 loci for blood lipids.
HDL cholesterol 99,900 European ancestry individuals NA 20q13.12 PLTP PLTP - PCIF1 rs6065906-C 0.18 2 x 10-22 .93 [0.73-1.13] mg/dL decrease Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
01/25/12 " Triglycerides 96,598 European ancestry individuals NA 20q13.12 PLTP PLTP - PCIF1 rs6065906-C 0.24 5 x 10-18 3.32 [2.5-4.14] mg/dL increase Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
09/24/13 Chasman DI
November 20, 2009
PLoS Genet
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
Lipid metabolism phenotypes Up to 17,296 European ancestry female individuals Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls 20q13.12 PLTP PLTP - PCIF1 rs6065906-? NR 3 x 10-49 (HDL.large, whole) .693 [NR] unit decrease Illumina
[335,603]
N
20q13.12 PLTP PLTP - PCIF1 rs6065906-? NR 1 x 10-45 (HDL.mean.size, whole) .083 [NR] unit decrease
20q13.12 PLTP PLTP rs6065904-? intron NR 4 x 10-40 (HDL.large, fasting) .689 [NR] unit decrease
20q13.12 PLTP PLTP - PCIF1 rs6065906-? NR 8 x 10-37 (HDL.mean.size, fasting) .087 [NR] unit decrease
01/12/09 Kathiresan S
December 07, 2008
Nat Genet
Common variants at 30 loci contribute to polygenic dyslipidemia.
HDL cholesterol 19,840 European ancestry individuals Up to 20,623 European ancestry individuals 20q13.12 PLTP PCIF1 rs7679-C UTR-3 0.19 4 x 10-9 .07 [0.03-0.11] s.d. decrease Affymetrix and Illumina
[~2,600,000] (imputed)
N
01/12/09 " Triglycerides 19,840 European ancestry individuals Up to 20,623 European ancestry individuals 20q13.12 PLTP PCIF1 rs7679-C UTR-3 0.19 7 x 10-11 .07 [0.03-0.11] s.d. increase Affymetrix and Illumina
[~2,600,000] (imputed)
N




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