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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
05/18/10 Macgregor S
April 15, 2010
Hum Mol Genet
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
Optic nerve measurement (cup area) 1,368 European ancestry twins from 666 families 848 European ancestry twins from 531 families 10q21.3 ATOH7 ATOH7 - KRT19P4 rs3858145-A NR 2 x 10-7 .209 [0.11-0.30] unit increase Illumina
[~2.74 million] (imputed)
N
3p25.1 RFTN1 RFTN1 rs690037-C intron NR 2 x 10-7 .208 [0.12-0.29] unit increase
4q12 SCFD2 SCFD2 rs2898681-G intron NR 2 x 10-6 .173 [0.069-0.277] unit increase
7q34 DENND2A DENND2A rs10237118-C intron NR 4 x 10-6 .313 [0.15-0.47] unit increase
11q13.4 PDE2A ART2P - PDE2A rs12418204-G NR 5 x 10-6 .305 [0.11-0.50] unit increase
12q21.33 LOC643153 MRPL2P1 - LINC00615 rs10858945-A NR 6 x 10-6 .171 [0.087-0.255] unit increase
1q41 ESRRG ESRRG rs1436900-T intron NR 7 x 10-6 .142 [0.058-0.226] unit decrease
5q33.1 NMUR2 CTB-12O2.1 - NMUR2 rs1010254-C NR 8 x 10-6 .182 [0.084-0.280] unit increase
8p23.1 LOC401447 NA rs9692809-C NR 8 x 10-6 .094 [-0.14708-0.33508] unit decrease
07/09/14 " Optic nerve measurement (cup-to-disc ratio) 1,368 European ancestry twins from 666 families 848 European ancestry twins from 531 families 3p25.1 RFTN1 RFTN1 rs690037-C intron NR 6 x 10-7 .198 [0.11-0.28] unit increase Illumina
[~2.74 million] (imputed)
N
4q22.3 UNC5C UNC5C rs10032931-C intron NR 4 x 10-6 .195 [0.10-0.29] unit decrease
NA LOC401447 NA rs9692809-C NR 6 x 10-6 .126 [-0.11704-0.36904] unit decrease
12q21.33 LOC643153 MRPL2P1 - LINC00615 rs10858945-A NR 6 x 10-6 .179 [0.093-0.265] unit increase
05/18/10 " Optic nerve measurement (disc area) 1,368 European ancestry twins from 666 families 848 European ancestry twins from 531 families 10q21.3 PBLD ATOH7 - KRT19P4 rs12571093-G NR 2 x 10-10 .313 [0.21-0.42] unit increase Illumina
[~2.74 million] (imputed)
N
10q21.3 ATOH7 ATOH7 - KRT19P4 rs3858145-A NR 3 x 10-10 .295 [0.20-0.39] unit increase
10q21.3 MYPN MYPN rs6480314-A intron NR 2 x 10-7 .244 [0.14-0.35] unit increase
1p22.1 HSP90B3P RPL39P13 - HSP90B3P rs1192415-A NR 3 x 10-7 .245 [0.14-0.35] unit decrease
2q22.1 LRP1B LRP1B rs491391-A intron NR 3 x 10-7 .407 [0.22-0.59] unit decrease
Xp11.23 ZNF157 NICN2P - ZNF157 rs6611365-G NR 4 x 10-7 .178 [0.096-0.260] unit increase
14q32.2 MEG3 DLK1 - MIR2392 rs1884537-C NR 2 x 10-6 .134 [0.052-0.216] unit increase
05/18/10 " Optic nerve measurement (rim area) 1,368 European ancestry twins from 666 families 848 European ancestry twins from 531 families 6q21 hCG_1820801 RNA5SP213 - DNAJA1P4 rs9488363-G NR 2 x 10-6 .147 [0.065-0.229] unit decrease Illumina
[~2.74 million] (imputed)
N
14q31.1 TSHR TSHR rs17111394-T intron NR 4 x 10-6 .216 [0.11-0.32] unit increase
1p36.22 PEX14 PEX14 rs12741973-C intron NR 7 x 10-6 .167 [0.087-0.247] unit decrease
13q22.1 LOC730245 KLF12 - RNY1P5 rs8000245-C NR 8 x 10-6 .212 [0.090-0.334] unit increase
14q23.1 SIX1 RPS15AP4 - SIX1 rs10483727-C NR 9 x 10-6 .151 [0.063-0.239] unit increase
22q12.3 MYH9 MYH9 rs735854-C intron NR 9 x 10-6 .156 [0.072-0.240] unit decrease




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