Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


NewUpdate (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. New


 

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
04/11/11 Kraja AT
March 08, 2011
Diabetes
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
HDL Cholesterol - Triglycerides (HDLC-TG) 22,161 European ancestry individuals NA 8p21.3 LPL LPL rs13702-A UTR-3 NR 1 x 10-16 .29 [0.23-0.35] unit increase Affymetrix & Illumina
[~2.5 million] (imputed)
N
16q13 CETP HERPUD1 - CETP rs173539-C NR 5 x 10-16 .26 [0.20-0.32] unit increase
11q23.3 BUD13 BUD13 rs10790162-A intron NR 3 x 10-15 .38 [0.28-0.48] unit increase
11q23.3 ZNF259 ZPR1 rs2075290-C intron NR 2 x 10-14 .39 [0.29-0.49] unit increase
11q23.3 APOA5 ZPR1; APOA5 rs2266788-C nearGene-5;UTR-3 NR 5 x 10-13 .39 [0.29-0.49] unit increase
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954026-G NR 8 x 10-9 .16 [0.10-0.22] unit decrease
19q13.32 LOC100129500 APOE - APOC1 rs439401-C NR 1 x 10-8 .24 [0.16-0.32] unit increase
8p23.1 LOC100129150 LOC157273 rs9987289-A intron NR 1 x 10-8 .25 [0.17-0.33] unit increase
04/11/11 " Metabolic syndrome 22,161 European ancestry individuals NA 11q23.3 ZNF259 ZPR1 rs2075290-C intron NR 2 x 10-9 .26 [0.18-0.34] unit increase Affymetrix & Illumina
[~2.5 million] (imputed)
N
11q23.3 APOA5 ZPR1; APOA5 rs2266788-C nearGene-5;UTR-3 NR 2 x 10-9 .26 [0.18-0.34] unit increase
8p21.3 LPL LPL rs295-A intron NR 2 x 10-9 .17 [0.11-0.23] unit increase
11q23.3 BUD13 BUD13 rs10790162-A intron NR 5 x 10-9 .25 [0.17-0.33] unit increase
16q13 CETP HERPUD1 - CETP rs173539-C NR 9 x 10-9 .16 [0.10-0.22] unit increase
04/11/11 " Metabolic syndrome (bivariate traits) 22,161 European ancestry individuals NA View full set of 16 SNPs Affymetrix & Illumina
[~2.5 million] (imputed)
N
16q13 CETP HERPUD1 - CETP rs173539-C NR 1 x 10-16 (HDLC-WC) .29 [0.23-0.35] unit increase
16q13 CETP HERPUD1 - CETP rs3764261-G NR 3 x 10-13 (BP-HDLC) .29 [0.21-0.37] unit increase
16q13 CETP CETP rs9939224-G intron 0.46 7 x 10-12 (HDLC-GLUC) .31 [0.21-0.41] unit decrease
8p21.3 LPL LPL rs301-C intron NR 3 x 10-11 (HDLC-WC) .22 [0.16-0.28] unit decrease
11q14.3 LOC100128354 RPS3AP42 - MTNR1B rs10830956-C NR 5 x 10-11 (TG-GLUC) .2 [0.14-0.26] unit decrease
11q14.3 LOC100128354 RPS3AP42 - MTNR1B rs1387153-C NR 2 x 10-9 (HDLC-GLUC) .21 [0.15-0.27] unit decrease
8p21.3 LPL LPL - RPL30P9 rs2197089-C NR 2 x 10-9 (TG-GLUC) .18 [0.12-0.24] unit increase
11q23.3 BUD13 BUD13 rs11820589-A missense NR 6 x 10-9 (TG-GLUC) .32 [0.20-0.44] unit increase
11q14.3 LOC100128354 RPS3AP42 - MTNR1B rs1387153-C NR 8 x 10-9 (BP-GLUC) .19 [0.13-0.25] unit decrease
11q23.3 ZNF259 ZPR1 rs12286037-C intron NR 1 x 10-8 (TG-GLUC) .32 [0.20-0.44] unit decrease
04/11/11 " Triglycerides-Blood Pressure (TG-BP) 22,161 European ancestry individuals NA 8p21.3 LPL LPL rs15285-A UTR-3 NR 1 x 10-10 .27 [0.19-0.35] unit decrease Affymetrix & Illumina
[~2.5 million] (imputed)
N
2p23.3 GCKR GCKR rs780093-A intron NR 3 x 10-10 .18 [0.12-0.24] unit increase
11q23.3 ZNF259 ZPR1 rs11823543-A intron NR 3 x 10-9 .35 [0.23-0.47] unit increase
11q23.3 BUD13 BUD13 rs11825181-A intron NR 3 x 10-9 .32 [0.22-0.42] unit increase
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954033-A NR 9 x 10-9 .17 [0.11-0.23] unit increase
11q23.3 APOA5 ZPR1; APOA5 rs2266788-C nearGene-5;UTR-3 NR 4 x 10-8 .37 [0.23-0.51] unit increase
04/11/11 " Waist Circumference - Triglycerides (WC-TG) 22,161 European ancestry individuals NA 11q23.3 ZNF259 ZPR1 rs2075290-C intron NR 1 x 10-16 .41 [0.31-0.51] unit increase Affymetrix & Illumina
[~2.5 million] (imputed)
N
11q23.3 APOA5 ZPR1; APOA5 rs2266788-A nearGene-5;UTR-3 NR 2 x 10-16 .41 [0.31-0.51] unit increase
11q23.3 BUD13 BUD13 rs10790162-A intron NR 7 x 10-16 .39 [0.29-0.49] unit increase
2p23.3 GCKR GCKR rs780093-A intron NR 2 x 10-12 .19 [0.13-0.25] unit increase
2p23.3 CCDC121 GPN1; CCDC121 rs3749147-C missense;nearGene-5 NR 1 x 10-9 .18 [0.12-0.24] unit decrease
2p23.3 C2orf16 C2orf16 rs1919128-A missense NR 2 x 10-9 .18 [0.12-0.24] unit decrease
2p23.3 ZNF512 ZNF512 rs13022873-A intron NR 5 x 10-9 .17 [0.11-0.23] unit decrease




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