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
01/08/14 Anttila V
June 23, 2013
Nat Genet
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
Migraine 23,285 European ancestry cases, 95,425 European ancestry controls NA View full set of 59 SNPs Affmetrix & Illumina
[~2.3 million] (Imputed)
N
12q13.3 LRP1 LRP1 rs11172113-? intron 0.57 4 x 10-19 1.11 [1.09-1.14]
1p36.32 PRDM16 PRDM16 rs2651899-C intron 0.41 4 x 10-14 1.09 [1.07-1.11]
1p13.2 TSPAN2 TSPAN2 - NGF rs12134493-A 0.12 5 x 10-14 1.14 [1.10-1.18]
2q37.1 TRPM8 TRPM8 rs6741751-? intron 0.9 9 x 10-14 1.15 [1.11-1.19]
6q16.1 FHL5 FHL5 rs11759769-A UTR-3 0.22 1 x 10-11 1.1 [1.07-1.13]
7p14.1 c7orf10 SUGCT rs4379368-T intron 0.11 1 x 10-9 1.11 [1.08-1.15]
1q22 MEF2D, APOA1BP MEF2D rs2274316-C intron 0.36 1 x 10-8 1.07 [1.05-1.10]
6p24.1 PHACTR1, TBC1D7 PHACTR1 rs9349379-? intron 0.6 5 x 10-8 1.08 [1.04-1.1]
10p14 Intergenic RNA5SP299 - LINC00709 rs827382-C 0.25 9 x 10-8 1.07 [1.04-1.10]
10q26.3 Intergenic GLRX3 - MIR378C rs11017221-T 0.13 1 x 10-7 1.09 [1.06-1.12]
01/08/14 " Migraine - clinic-based 5,175 European ancestry clinic-based cases, 13,972 European ancestry clinic-based controls NA View full set of 37 SNPs Affmetrix & Illumina
[~2.3 million] (Imputed)
N
9q33.1 ASTN2 ASTN2 rs6478241-A intron 0.38 1 x 10-9 1.16 [1.11-1.22]
2q37.1 TRPM8 TRPM8 rs6741751-? intron 0.9 1 x 10-8 1.27 [1.16-1.37]
3p24.1 TGFBR2 RBMS3-AS2 - TGFBR2 rs6790925-T 0.38 2 x 10-8 1.15 [1.10-1.21]
1p36.32 AJAP1 LINC01134 - AJAP1 rs10915437-? 0.64 3 x 10-8 1.16 [1.1-1.22]
8p21.2 Intergenic STC1 - ADAM28 rs11777116-T 0.08 6 x 10-8 1.27 [1.17-1.39]
1q22 MEF2D, APOA1BP MEF2D rs2274316-C intron 0.36 1 x 10-7 1.14 [1.09-1.20]
5q23.3 Intergenic FBN2 rs17608902-A intron 0.09 1 x 10-7 1.25 [1.15-1.35]
18q21.1 Intergenic HAUS1 rs11874712-A intron 0.41 2 x 10-7 1.15 [1.09-1.20]
6q16.1 FHL5 FHL5 rs11759769-A UTR-3 0.22 4 x 10-7 1.16 [1.09-1.23]
7p14.1 c7orf10 SUGCT rs4379368-T intron 0.11 7 x 10-7 1.2 [1.12-1.29]
01/08/14 " Migraine with aura 5,118 European ancestry cases, 74,239 European ancestry controls NA View full set of 23 SNPs Affmetrix & Illumina
[~2.3 million] (Imputed)
N
8p21.3 GFRA2 TMEM97P2 - GFRA2 rs7015657-G 0.3 8 x 10-8 1.15 [1.09-1.21]
2q37.1 TRPM8 TRPM8 rs6741751-? intron 0.9 1 x 10-7 1.23 [1.14-1.33]
10p15.3 Intergenic ADARB2 rs2820651-A intron 0.1 4 x 10-7 1.22 [1.13-1.31]
12q13.11 Intergenic MIR4494 - RPAP3 rs2074193-C 0.21 5 x 10-7 1.15 [1.09-1.21]
10p11.23 Intergenic CKS1BP2 - KIAA1462 rs2986961-C 0.26 5 x 10-7 1.14 [1.08-1.20]
18q21.31 Intergenic NEDD4L rs12454023-? intron 0.5 8 x 10-7 1.12 [1.08-1.18]
9q21.12 Intergenic KLF9 - TRPM3 rs963265-? 0.6 1 x 10-6 1.12 [1.08-1.18]
10q11.23 Intergenic VSTM4 rs2137920-T intron 0.18 1 x 10-6 1.15 [1.09-1.22]
18q21.1 Intergenic CTIF rs7227892-? intron 0.72 2 x 10-6 1.14 [1.08-1.19]
4p13 Intergenic LIMCH1 rs4345220-? intron 0.56 2 x 10-6 1.15 [1.09-1.2]
01/08/14 " Migraine without aura 7,107 European ancestry cases, 69,427 European ancestry controls NA View full set of 32 SNPs Affmetrix & Illumina
[~2.3 million] (Imputed)
N
6q16.1 FHL5 FHL5 rs11759769-A UTR-3 0.22 2 x 10-12 1.18 [1.13-1.24]
2q37.1 TRPM8 TRPM8 rs6741751-? intron 0.9 9 x 10-11 1.25 [1.16-1.33]
12q13.3 LRP1 LRP1 rs11172113-? intron 0.57 1 x 10-10 1.15 [1.1-1.19]
6p24.1 TBC1D7,PHACTR1,TSC1 PHACTR1 rs9349379-? intron 0.6 3 x 10-10 1.16 [1.11-1.22]
8q21.3 MMP16 RNA5SP272 - RIPK2 rs10504861-? 0.84 1 x 10-8 1.16 [1.11-1.23]
1p13.2 TSPAN2 TSPAN2 - NGF rs12134493-A 0.12 5 x 10-8 1.18 [1.11-1.26]
7p14.1 c7orf10 SUGCT rs4379368-T intron 0.11 6 x 10-8 1.19 [1.12-1.27]
9q33.1 ASTN2 ASTN2 rs6478241-A intron 0.38 1 x 10-7 1.12 [1.08-1.18]
6q22.31 Intergenic GJA1 - SLC25A5P7 rs9490306-A 0.14 3 x 10-7 1.18 [1.11-1.25]
10q23.2 Intergenic WAPAL rs7075426-A intron 0.47 6 x 10-7 1.11 [1.06-1.15]




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