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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

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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
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 View full set of 18 SNPs Illumina
[~7.7 million] (imputed)
N
15q21.3 LIPC LOC102724766 rs35853021-? intron NR 7 x 10-76 (XL-HDL-TG) .31 [0.27-0.35] unit increase
11q12.2 FADS1, FADS2, FADS3 FADS1 rs174547-? intron NR 8 x 10-262 (LA/PUFA) .57 [0.53-0.61] unit increase
19q13.32 APOE, APOC1, APOC2 APOE rs7412-? missense NR 3 x 10-58 (L-LDL-FC) .75 [0.65-0.85] unit decrease
16q13 CETP HERPUD1 - CETP rs3764261-? NR 1 x 10-36 (HDL-C) .22 [0.18-0.26] unit increase
20q13.12 PLTP PLTP rs6065904-? intron NR 2 x 10-31 (L-HDL-L/M-HDL-L) .22 [0.18-0.26] unit decrease
6p22.1 PPP1R11 ZNRD1-AS1 rs6917603-? intron NR 3 x 10-29 (XXL-VLDL-P) .24 [0.2-0.28] unit decrease
11q23.3 APOA1, APOC3, APOA4, APOA5 APOA5 rs651821-? UTR-5 NR 8 x 10-20 (Val/serum TG) .27 [0.21-0.33] unit increase
1p32.2 PCSK9 GOT2P1 - RPSAP20 rs72669744-? NR 1 x 10-19 (L-LDL-FC) .59 [0.47-0.71] unit decrease
4q13.3 ALB ADAMTS3 rs115136538-? intron NR 5 x 10-18 (Albumin) .51 [0.39-0.63] unit decrease
19p13.2 LDLR SMARCA4 - LDLR rs55791371-? NR 8 x 10-17 (M-LDL-C/M-LDL-PL) .26 [0.2-0.32] unit decrease
02/28/12 " Metabolite levels 8,330 European ancestry individuals NA View full set of 13 SNPs Illumina
[~7.7 million] (imputed)
N
12q13.3 GLS2 GLS2; SPRYD4 rs2638315-? UTR-3;nearGene-3 NR 2 x 10-35 (Gln, Glc) .29 [0.25-0.33] unit decrease
2p14 SLC1A4 SLC1A4 rs2160387-? intron NR 3 x 10-22 (Ala, Val) .17 [0.13-0.21] unit decrease
2p23.3 GCKR GCKR rs1260326-? missense NR 3 x 10-18 (Ala, Gln) .15 [0.11-0.19] unit decrease
16q22.2 TAT TAT - MARVELD3 rs4788815-? NR 2 x 10-17 (Phe, Tyr) .15 [0.11-0.19] unit increase
2q31.1 G6PC2 G6PC2 rs560887-? intron NR 2 x 10-17 (Glc) .15 [0.11-0.19] unit increase
4q22.1 PPM1K LOC101929118 rs1440581-? intron NR 2 x 10-16 (Fischer's ratio) .13 [0.091-0.169] unit increase
22q11.21 SLC25A1 GSC2 - SLC25A1 rs807669-? NR 3 x 10-16 (Citrate) .14 [0.1-0.18] unit decrease
6q21 SLC16A10 REV3L rs6900341-? intron NR 4 x 10-15 (Ala, Tyr) .13 [0.091-0.169] unit increase
17p13.1 SLC2A4 PHF23 rs117616209-? intron NR 3 x 10-14 (Fischer's ratio) .51 [0.37-0.65] unit decrease
4q35.2 KLKB1 KLKB1 rs4241816-? intron NR 6 x 10-13 (His, Val) .12 [0.081-0.159] unit increase




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