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
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.
Gamma glutamyl transpeptidase 12,545 Korean ancestry individuals Up to 30,395 East Asian ancestry individuals 12q24.13 C12orf51 HECTD4 rs2074356-T intron 0.15 3 x 10-126 .0161 [0.015-0.017] IU/L increase Affymetrix
[~2.2 million] (imputed)
N
12q24.11 MYL2 MYL2 - CUX2 rs12229654-G 0.14 9 x 10-58 .0119 [0.011-0.013] IU/L increase
22q11.23 GGT1, C22orf36 GGT1; LRRC75B rs4820599-G intron;nearGene-5 0.24 7 x 10-53 .0088 [0.0076-0.0100] IU/L decrease
12q24.13 Intergenic OAS1 - OAS3 rs11066453-G 0.13 6 x 10-44 .0097 [0.0083-0.0111] IU/L increase
12q24.31 HNF1A HNF1A rs2393791-G intron 0.48 7 x 10-30 .0076 [0.0062-0.0090] IU/L increase
4q31.22 ZNF827 ZNF827 rs4835265-T intron 0.42 1 x 10-14 .0043 [0.0031-0.0055] IU/L decrease
7q11.23 TBL2 SPDYE9P rs12539316-C 0.10 6 x 10-10 .0051 [0.0035-0.0067] IU/L increase
10/11/11 " HDL cholesterol 12,545 Korean ancestry individuals Up to 30,395 East Asian ancestry individuals 8p21.3 LPL LPL - RPL30P9 rs10503669-T 0.12 8 x 10-43 .0426 [0.037-0.049] mg/dL increase Affymetrix
[~2.2 million] (imputed)
N
12q24.13 C12orf51 HECTD4 rs2074356-T intron 0.15 7 x 10-37 .035 [0.030-0.040] mg/dL decrease
11q23.3 Intergenic RPL15P15 - BUD13 rs11216126-C 0.20 3 x 10-34 .0322 [0.027-0.037] mg/dL increase
16q13 CETP CETP rs12708980-C intron 0.10 2 x 10-28 .0396 [0.033-0.047] mg/dL decrease
15q21.3 Intergenic LOC102724766 rs16940212-T intron 0.34 1 x 10-24 .0222 [0.018-0.027] mg/dL increase
12q24.11 MYL2 MYL2 - CUX2 rs12229654-G 0.14 3 x 10-23 .028 [0.023-0.033] mg/dL decrease
9q31.1 ABCA1 ABCA1 rs12686004-T intron 0.21 2 x 10-18 .0217 [0.017-0.027] mg/dL decrease
19q13.32 PVRL2, TOMM40, APOE PVRL2 rs519113-C intron 0.15 8 x 10-11 .0179 [0.012-0.023] mg/dL decrease
12q24.13 OAS3 OAS3 rs2072134-A UTR-3 0.11 6 x 10-6 .0204 [0.012-0.029] mg/dL decrease
10/11/11 " Metabolite levels 12,545 Korean ancestry individuals Up to 30,395 East Asian ancestry individuals View full set of 18 SNPs Affymetrix
[~2.2 million] (imputed)
N
12q24.13 C12orf51 HECTD4 rs11066280-A intron 0.17 3 x 10-63 (ALT) .0016 [0.0014-0.0018] IU/L increase
22q13.31 PNPLA3 PNPLA3 rs12483959-A intron 0.42 2 x 10-39 (ALT) .001 [0.00080-0.00120] IU/L increase
12q24.13 C12orf51 HECTD4 rs11066280-A intron 0.17 8 x 10-22 (ALT) .0045 [0.0035-0.0055] IU/L increase
3q27.3 Intergenic BCL6 - LPP-AS2 rs4686914-T 0.38 3 x 10-21 (BUN) .0242 [0.019-0.029] mg/dL decrease
5q13.3 HMGCR HMGCR rs12654264-T intron 0.48 1 x 10-20 (LDL) 2.7106 [2.14-3.28] mg/dL decrease
7p13 GCK GCK rs1799884-A nearGene-5 0.19 2 x 10-19 (FPG) .0619 [0.049-0.075] mg/dL increase
1p13.3 CELSR2, PSRC1, SORT1 PSRC1 rs599839-G nearGene-3 0.06 2 x 10-19 (LDL) 5.2254 [4.09-6.37] mg/dL decrease
22q13.31 PNPLA3 PNPLA3 rs12483959-A intron 0.42 2 x 10-18 (ALT) .0039 [0.0031-0.0047] IU/L decrease
3p14.1 Intergenic RPL21P41 - KBTBD8 rs13069049-T 0.17 3 x 10-18 (BUN) .0182 [0.014-0.022] mg/dL increase
2p23.3 GCKR GCKR rs780092-G intron 0.33 5 x 10-18 (ALB) .0232 [-0.02972-0.07612] g/dL decrea
10/11/11 " Triglycerides 12,545 Korean ancestry individuals Up to 30,395 East Asian ancestry individuals 11q23.3 ZNF259, APOA1, APOC3, APOA4, APOA5, BUD13 ZPR1 rs603446-T intron 0.23 2 x 10-86 .0876 [0.079-0.096] mg/dL decrease Affymetrix
[~2.2 million] (imputed)
N
8p21.3 LPL LPL - RPL30P9 rs10503669-T 0.12 7 x 10-39 .0857 [0.073-0.098] mg/dL decrease
2p23.3 GCKR GCKR rs780092-G intron 0.33 5 x 10-27 .05 [0.041-0.059] mg/dL decrease
8q24.13 Intergenic TRIB1 - LINC00861 rs2001945-C 0.42 1 x 10-20 .0405 [0.032-0.049] mg/dL increase
7q11.23 TBL2, MLXIPL TBL2 rs2286276-T intron 0.10 1 x 10-15 .0652 [0.049-0.081] mg/dL decrease




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