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
02/12/13 Jostins L
November 01, 2012
Nature
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Crohn's disease Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls View full set of 30 SNPs Affyemtrix & Illumina
[1.23 million] (imputed)
N
2q37.1 ATG16L1, INPP5D ATG16L1 rs12994997-A intron 0.523 4 x 10-70 1.233 [1.193-1.274]
16q12.1 NOD2,ADCY7 NOD2 rs2066847-T frameshift 0.024 6 x 10-209 3.103 [1.497-1.618]
6p21.33 HLA-C,PSORS1C1,NFKBIL1,MICB TRNAI25 rs9264942-C 0.378 5 x 10-28 1.145 [1.107-1.184]
1q24.3 FASLG,TNFSF18 AIMP1P2 - TNFSF18 rs9286879-G 0.249 6 x 10-22 1.125 [1.083-1.167]
19p13.3 GPX4,HMHA1 SBNO2 rs2024092-A intron 0.215 8 x 10-22 1.156 [1.112-1.201]
13q14.11 LACC1 LACC1 rs3764147-G missense 0.248 2 x 10-21 1.155 [1.112-1.199]
17q11.2 LGALS9,NOS2 KSR1 rs2945412-A intron 0.587 9 x 10-17 1.137 [1.10-1.175]
2q37.1 SP140 SP140 rs6716753-C intron 0.196 1 x 10-16 1.134 [1.089-1.18]
8q24.21 Intergenic LINC01263 - LINC00977 rs6651252-T 0.865 1 x 10-16 1.185 [1.128-1.246]
21q22.11 IFNGR2,IFNAR1,IFNAR2,IL10RB,GART,TMEM50B IFNGR2 rs2284553-G intron 0.599 2 x 10-16 1.123 [1.086-1.162]
02/12/13 " Inflammatory bowel disease 12,924 European ancestry cases, 21,442 European ancestry controls 25,683 European ancestry cases, 17,015 European ancestry controls View full set of 110 SNPs Affymetrix & Illumina
[1.23 million](imputed)
N
1p31.3 IL23R,IL12RB2 IL23R rs11209026-G missense 0.933 8 x 10-161 2.013 [1.885-2.15]
21q22.2 Intergenic RPSAP64 - RPL23AP12 rs2836878-G 0.733 5 x 10-48 1.18 [1.142-1.219]
5q31.1 IRF1,IL13,CSF2,SLC22A4,IL4,IL3,IL5,PDLIM4,SLC22A5,ACSL6 C5orf56 rs2188962-T intron 0.425 1 x 10-52 1.158 [1.125-1.191]
9q34.3 CARD9,PMPCA,SDCCAG3,INPP5E CARD9 rs10781499-A cds-synon 0.412 4 x 10-56 1.188 [1.154-1.222]
10q24.2 NKX2-3 GOT1 - NKX2-3 rs4409764-T 0.491 1 x 10-54 1.182 [1.149-1.217]
3p21.31 MST1,PFKFB4,MST1R,UCN2,GPX1,IP6K2,BSN,IP6K1,USP4 MST1 rs3197999-A missense 0.296 1 x 10-47 1.18 [1.144-1.216]
5p13.1 PTGER4 LINC00603 - PTGER4 rs11742570-C 0.605 2 x 10-82 1.198 [1.164-1.234]
10q21.2 Intergenic ZNF365 - ALDH7A1P4 rs10761659-G 0.543 6 x 10-46 1.166 [1.134-1.20]
9p24.1 JAK2 HNRNPA1P41 - JAK2 rs10758669-C 0.349 8 x 10-45 1.174 [1.139-1.209]
5q33.3 IL12B RNU4ATAC2P - ADRA1B rs6871626-A 0.337 1 x 10-42 1.181 [1.146-1.216]
02/12/13 " Ulcerative colitis Up to 12,924 European ancestry cases, up to 21,442 European ancestry controls Up to 25,683 European ancestry cases, up to 17,015 European ancestry controls View full set of 23 SNPs Affymetrix & Illumina
[1.23 million] (imputed)
N
6p21.32 HLA-DQB1,HLA-DRB1,HLA-DQA1,HLA-DRA HLA-DQA1 rs6927022-A intron 0.535 5 x 10-133 1.444 [1.387-1.503]
1p36.13 Intergenic RNF186 - OTUD3 rs6426833-A 0.542 2 x 10-68 1.265 [1.221-1.31]
20q13.12 ADA,HNF4A MIR3646 - C20orf62 rs6017342-C 0.53 1 x 10-43 1.228 [1.185-1.273]
7q31.1 DLD PIGCP2 - DLD rs4380874-T 0.405 2 x 10-26 1.137 [1.097-1.177]
1q32.1 Intergenic NR5A2 rs2816958-G intron 0.887 2 x 10-17 1.23 [1.161-1.302]
11q23.2 NXPE1,NXPE4 REXO2 - NXPE1 rs561722-C 0.663 5 x 10-17 1.12 [1.079-1.163]
7p22.3 CARD11,GNA12,TTYH3 GNA12 rs798502-A intron 0.709 6 x 10-17 1.127 [1.084-1.171]
7q32.1 IRF5,TNPO3,TSPAN33 KCP - IRF5 rs4728142-A 0.444 4 x 10-14 1.104 [1.066-1.143]
2q33.1 Intergenic PLCL1 - SATB2 rs17229285-C 0.496 2 x 10-13 1.117 [1.079-1.157]
1p36.32 TNFRSF14,MMEL1,PLCH2 TNFRSF14 - FAM213B rs10797432-C 0.522 3 x 10-12 1.078 [1.041-1.116]




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