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
03/27/12 Demirkan A
February 16, 2012
PLoS Genet
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Phospholipid levels (plasma) 4,034 European ancestry individuals NA View full set of 25 SNPs Illumina
[NR] (imputed)
N
11q12.2 FADS1, FADS2, FADS3 TMEM258 rs102275-? intron NR 1 x 10-203 (levels) 0 [0.80-23.0] % increase
15q21.3 LIPC LOC102724766 rs10468017-? intron NR 7 x 10-43 (levels) 0 [0.80-4.70] % increase
3q23 PAQR9 LOC100507389 rs9832727-? intron NR 6 x 10-29 (proportions) 0 [0.80-3.10] % increase
16p13.11 PDXDC1 PDXDC1; NTAN1 rs4500751-? intron;intron NR 6 x 10-23 (levels) 0 [0.80-2.40] % increase
14q24.1 PLEKHH1 TMEM229B rs1077989-? intron NR 9 x 10-18 (levels) 0 [0.80-1.80] % increase
10q24.31 PKD2L1 PKD2L1 rs603424-? intron NR 6 x 10-14 (levels) 1.4 [NR] % increase
6p24.2 ELOVL2 ELOVL2 rs17606561-? UTR-3 NR 1 x 10-11 (proportions) 0 [0.80-1.10] % increase
2p23.3 GCKR ZNF512 rs4666002-? intron NR 7 x 10-11 (levels) 0 [1.10-0.70] % increase
11q23.3 APOA5 ZPR1 rs964184-? intron NR 2 x 10-10 (proportions) 1 [NR] % increase
6p21.32 AGPAT1 AGPAT1; EGFL8; PPT2-EGFL8 rs1061808-? UTR-3;intron;nearGene-3 NR 8 x 10-10 (proportions) .9 [NR] % increase
03/27/12 " Sphingolipid levels 4,034 European ancestry individuals NA 14q23.2 SGPP1 EIF2S2P1 - HMGN2P14 rs17101394-? NR 3 x 10-57 (levels) 0 [0.70-6.3] % increase Illumina
[NR] (imputed)
N
19p13.2 LASS4 FBN3 - CERS4 rs7258249-? NR 1 x 10-34 (levels) 0 [0.80-3.70] % increase
4p12 ATP10D ATP10D rs13106975-? intron NR 2 x 10-19 (levels) 0 [0.70-2.0] % increase
20p12.1 SPTLC3 PA2G4P2 - SPTLC3 rs680379-? NR 2 x 10-16 (levels) 0 [0.80-1.70] % increase
11q12.2 FADS1, FADS2, FADS3 RAB3IL1 rs174479-? intron NR 2 x 10-14 (levels) 0 [0.80-1.50] % increase
19q13.32 APOE-C1, APOE-C2, APOE-C4 APOC1P1 rs7259004-? intron NR 5 x 10-10 (levels) 0 [0.80-1.0] % increase
17p13.2 PLD2 TM4SF5 rs12051548-? intron NR 1 x 10-9 (levels) 0 [0.70-0.90] % increase
19p13.11 LPAR2 ZNF101 rs2304130-? intron NR 6 x 10-9 (proportions) .8 [NR] % increase
5p15.31 PAPD7 PAPD7 - MIR4278 rs1566039-? NR 1 x 10-8 (levels) .8 [NR] % increase
16q23.1 CNTNAP4 CNTNAP4 rs4485401-? intron NR 2 x 10-8 (proportions) .8 [NR] % increase




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