NIH

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
01/12/09 Sabatti C
December 07, 2008
Nat Genet
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
HDL cholesterol 4,763 Northern Finnish founder individuals NA 16q13 CETP HERPUD1 - CETP rs3764261-A 0.28 7 x 10-29 .09 [0.08-0.11] mmol/l increase Illumina
[329,091]
N
15q21.3 LIPC LOC102724766 rs1532085-A intron 0.44 2 x 10-10 .05 [0.03-0.06] mmol/l increase
16q22.1 LCAT DPEP3 rs255049-G intron 0.22 3 x 10-8 .05 [0.03-0.07] mmol/l increase
11p11.2 NR1H3 NR1H3 rs7120118-G intron 0.42 4 x 10-8 .04 [0.03-0.05] mmol/l increase
17p13.3 Intergenic METTL16 - EIF4A1P9 rs9891572-A 0.16 2 x 10-7 .05 [0.048-0.051] mmol/l increase
01/12/09 " LDL cholesterol 4,763 Northern Finnish founder individuals NA 1p13.3 CELSR2, PSRC1, SORT1 CELSR2 rs646776-G nearGene-3 0.21 2 x 10-12 .16 [0.11-0.20] mmol/l decrease Illumina
[329,091]
N
2p24.1 APOB APOB rs693-A cds-synon 0.41 3 x 10-11 .12 [0.09-0.16] mmol/l increase
19q13.32 APO cluster TOMM40 rs157580-G intron 0.29 5 x 10-8 .11 [0.07-0.15] mmol/l decrease
11q12.2 FADS1, FADS2 FADS1 rs174546-A UTR-3 0.44 1 x 10-7 .1 [0.06-0.13] mmol/l decrease
19p13.2 LDLR SMARCA4 - LDLR rs11668477-G 0.18 2 x 10-7 .13 [0.08-0.17] mmol/l decrease
1q32.2 CR1L CR1L rs4844614-A intron 0.32 2 x 10-7 .1 [0.06-0.14] mmol/l increase
Xq12 AR AR rs5031002-A intron 0.02 2 x 10-7 .3 [0.18-0.41] mmol/l increase
01/12/09 " Metabolic traits 4,763 Northern Finnish founder individuals NA View full set of 11 SNPs Illumina
[329,091]
N
1q23.2 CRP CRPP1 - CRP rs2794520-A 0.36 3 x 10-22 (CRP) .47 [0.32-0.62] mmol/l decrease
12q24.31 LEF1 RPL12P33 - HNF1A-AS1 rs2650000-A 0.45 3 x 10-11 (CRP) .4 [0.25-0.55] mmol/l decrease
2p23.3 GCKR GCKR rs1260326-A missense 0.35 4 x 10-10 (TG) .09 [0.06-0.12] mmol/l increase
2q31.1 G6PC2, ABCB11 G6PC2 rs560887-A intron 0.31 6 x 10-10 (GLU) .06 [0.04-0.07] mmol/l decrease
2p24.1 APOB APOB rs673548-A intron 0.27 2 x 10-8 (TG) .08 [0.05-0.11] mmol/l decrease
8p21.3 LPL LPL - RPL30P9 rs10096633-A 0.098 5 x 10-8 (TG) .12 [0.07-0.17] mmol/l decrease
11q14.3 MTNR1B MTNR1B - RPL26P31 rs1447352-G 0.42 6 x 10-8 (GLU) .05 [0.03-0.06] mmol/l decrease
7p21.2 Intergenic GTF3AP5 - AGMO rs10244051-C 0.46 1 x 10-7 (GLU) .05 [0.03-0.06] mmol/l increase
10q23.31 PANK1 PANK1 rs11185790-A intron 0.21 3 x 10-7 (INS) .31 [0.18-0.44] mmol/l decrease
15q14 Intergenic C15orf53 - C15orf54 rs2624265-G 0.42 4 x 10-7 (TG) .07 [0.04-0.10] mmol/l increase




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