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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

To view the PDF(s) on this page you will need Adobe Reader. Download Adobe Reader

 

 

 





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 Aulchenko YS
December 07, 2008
Nat Genet
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Cholesterol, total 21,848 European ancestry individuals, 714 Orcadian individuals NA View full set of 15 SNPs Illumina and Affymetrix
[up to ~600,000]
N
19p13.2 LDLR LDLR rs2228671-G cds-synon 0.88 9 x 10-24 .16 [NR] s.d. increase
2p24.1 APOB APOB rs693-G cds-synon 0.52 9 x 10-23 .1 [NR] s.d. decrease
1p13.3 CELSR2 CELSR2 rs646776-G nearGene-3 0.22 9 x 10-22 .13 [NR] s.d. decrease
19q13.32 TOMM40, APOE TOMM40 rs2075650-G intron 0.15 3 x 10-19 .14 [NR] s.d. increase
5q13.3 HMGCR HMGCR rs3846662-G intron 0.44 3 x 10-19 .09 [NR] s.d. increase
19p13.11 NCAN ZNF101 rs2304130-G intron 0.07 2 x 10-15 .15 [NR] s.d. decrease
1p31.3 DOCK7 DOCK7 rs10889353-C intron 0.32 4 x 10-12 .08 [NR] s.d. decrease
18q21.1 LIPG LIPG - SMUG1P1 rs4939883-G 0.83 2 x 10-11 .07 [NR] s.d. increase
2p21 ABCG5 ABCG5; ABCG8 rs6756629-G missense;nearGene-5 0.92 2 x 10-11 .15 [NR] s.d. increase
11q12.2 FADS2, FADS3 FADS2 rs174570-G intron 0.83 2 x 10-10 .09 [NR] s.d. increase
01/12/09 " HDL cholesterol 20,697 European ancestry individuals, 715 Orcadian individuals NA 16q13 CETP CETP rs1532624-C intron 0.57 9 x 10-94 .21 [NR] s.d. decrease Illumina and Affymetrix
[up to ~600,000]
N
15q21.3 LIPC LOC102724766 rs1532085-G intron 0.59 1 x 10-35 .13 [NR] s.d. decrease
8p21.3 LPL LPL - RPL30P9 rs2083637-G 0.26 6 x 10-18 .11 [NR] s.d. increase
16q22.1 CTCF, PRMT8 NUTF2 rs2271293-G intron 0.87 8 x 10-16 .13 [NR] s.d. decrease
9q31.1 ABCA1 ABCA1 rs3905000-G intron 0.86 9 x 10-13 .11 [NR] s.d. increase
18q21.1 LIPG LIPG - SMUG1P1 rs4939883-G 0.83 2 x 10-11 .1 [NR] s.d. increase
11p11.2 MADD, FOLH1 OR4A46P - OR4A40P rs7395662-G 0.61 6 x 10-11 .07 [NR] s.d. decrease
2p24.1 APOB C2orf43 - APOB rs6754295-C 0.25 4 x 10-8 .07 [NR] s.d. increase
19q13.32 TOMM40, APOE TOMM40 rs157580-G intron 0.33 4 x 10-7 .06 [NR] s.d. increase
11q12.2 FADS2, FADS3 FADS2 rs174570-G intron 0.83 4 x 10-6 .06 [NR] s.d. increase
01/12/09 " LDL cholesterol 17,083 European ancestry individuals, 714 Orcadian individuals NA View full set of 12 SNPs Illumina and Affymetrix
[up to 600,000]
N
1p13.3 CELSR2 CELSR2 rs646776-G nearGene-3 0.22 8 x 10-23 .16 [NR] s.d. decrease
19q13.32 TOMM40, APOE TOMM40 rs157580-G intron 0.33 2 x 10-19 .11 [NR] s.d. decrease
2p24.1 APOB APOB rs693-G cds-synon 0.52 4 x 10-17 .1 [NR] s.d. decrease
19p13.2 LDLR LDLR rs2228671-G cds-synon 0.88 4 x 10-14 .14 [NR] s.d. increase
11q12.2 FADS2, FADS3 FADS2 rs174570-G intron 0.83 4 x 10-13 .11 [NR] s.d. increase
11q23.3 APOA1, APOA4, APOA5, APOC3 RPL15P15 - BUD13 rs12272004-C 0.93 5 x 10-13 .18 [NR] s.d. decrease
5q13.3 HMGCR HMGCR rs3846662-G intron 0.44 2 x 10-11 .08 [NR] s.d. increase
2p21 ABCG5 ABCG5; ABCG8 rs6756629-G missense;nearGene-5 0.92 3 x 10-10 .16 [NR] s.d. increase
7p15.3 DNAH11 DNAH11 rs12670798-G intron 0.24 6 x 10-9 .09 [NR] s.d. increase
19p13.11 NCAN ZNF101 rs2304130-G intron 0.07 3 x 10-6 .12 [NR] s.d. decrease
01/12/09 " Triglycerides 17,100 European ancestry individuals, 715 Orcadian individuals NA 2p23.3 GCKR GCKR rs780094-G intron 0.63 3 x 10-20 .1 [NR] s.d. decrease Illumina and Affymetrix
[up to 600,000]
N
8p21.3 LPL LPL - RPL30P9 rs10096633-G 0.88 2 x 10-18 .17 [NR] s.d. increase
11q23.3 APOA1, APOA4, APOA5, APOC3 RPL15P15 - BUD13 rs12272004-C 0.93 5 x 10-13 .18 [NR] s.d. decrease
7q11.23 MLXIPL BAZ1B rs2240466-G intron 0.87 1 x 10-12 .14 [NR] s.d. increase
1p31.3 DOCK7 DOCK7 rs1167998-C intron 0.32 2 x 10-12 .09 [NR] s.d. decrease
19q13.32 TOMM40, APOE APOE - APOC1 rs439401-G 0.68 2 x 10-9 .09 [NR] s.d. increase
2p24.1 APOB C2orf43 - APOB rs6754295-C 0.25 3 x 10-8 .08 [NR] s.d. decrease
19p13.11 NCAN ZNF101 rs2304130-G intron 0.07 3 x 10-6 .1 [NR] s.d. decrease




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