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
08/17/12 Fox CS
May 10, 2012
PLoS Genet
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Subcutaneous adipose tissue 5,560 European ancestry female individuals, 4,997 European ancestry male individuals NA View full set of 39 SNPs Affymetrix & Illumina
[2.5 million] (imputed)
N
16q12.2 FTO FTO rs9922619-T intron 0.44 6 x 10-8 (overall) NR
5q23.1 DTWD2 RPL7L1P4 - RNU7-34P rs13166814-A 0.16 5 x 10-7 (men) NR
8p21.2 STC1 STC1 - ADAM28 rs7833268-C 0.13 6 x 10-7 (women) NR
2q24.2 TANK MIR4785 - TANK rs1722636-T 0.23 6 x 10-7 (women) NR
15q22.2 RORA RORA rs12591650-A intron 0.85 7 x 10-7 (women) NR
5q23.2 ZNF608 HMGB1P29 - ZNF608 rs17501712-T 0.14 7 x 10-7 (women) NR
4q31.23 NR3C2 NR3C2 rs11725509-A intron 0.97 1 x 10-6 (women) NR
19q13.32 QPCTL, FBXO46, EML2, SNRPD2, GIPR SNRPD2; QPCTL rs7245708-C nearGene-5;UTR-5 0.04 1 x 10-6 (women) NR
6q22.31 TCBA1 NKAIN2 - STL rs11154271-C 0.22 1 x 10-6 (overall) NR
3q25.1 CP CPHL1P rs7617219-A 0.60 1 x 10-6 (men) NR
08/17/12 " Visceral adipose tissue adjusted for BMI 5,560 European ancestry female individuals, 4,997 European ancestry male individuals NA View full set of 45 SNPs Affymetrix & Illumina
[2.5 million] (imputed)
N
16p13.3 A2BP1 RBFOX1 rs11643447-T intron 0.05 2 x 10-7 (men) NR
18q11.2 TAF4B TAF4B rs1791780-G intron 0.54 4 x 10-7 (men) NR
2p25.2 LOC129607 LINC01247 - MIR7515 rs10495537-T 0.32 5 x 10-7 (men) NR
16p13.12 LOC92017 SNX29 rs1641895-T intron 0.02 5 x 10-7 (overall) NR
19q13.11 SLC7A10 SLC7A10 rs8106493-T intron 0.20 1 x 10-6 (men) NR
4q31.23 DCLK2 ATP5LP4 - DCLK2 rs11930273-G 0.91 1 x 10-6 (overall) NR
1p13.2 KCND3 KCND3 rs2798334-C intron 0.73 1 x 10-6 (women) NR
1p36.22 MAD2L2 MAD2L2 rs2336030-C intron 0.65 1 x 10-6 (men) NR
12q24.13 DTX1, OAS2, RASAL1 LOC100506734 rs7956193-T intron 0.29 1 x 10-6 (women) NR
6p21.33 HLA-B, HCP5 MICA rs12175489-A intron 0.15 2 x 10-6 (men) NR
08/17/12 " Visceral adipose tissue/subcutaneous adipose tissue ratio 5,560 European ancestry female individuals, 4,997 European ancestry male individuals NA View full set of 42 SNPs Affymetrix & Illumina
[2.5 million] (imputed)
N
1q41 LYPLAL1 RIMKLBP2 - ZC3H11B rs11118316-A 0.44 3 x 10-9 (overall) NR
12q24.31 DNAH10 DNAH10 rs1316952-T intron 0.87 1 x 10-7 (women) NR
3p14.1 ADAMTS9 ADAMTS9-AS2 rs7433808-A intron 0.74 2 x 10-7 (women) NR
3p14.1 ADAMTS9 ADAMTS9-AS2 rs7433808-A intron 0.74 2 x 10-7 (overall) NR
6q15 BACH2 BACH2 rs12204127-T intron 0.20 6 x 10-7 (overall) NR
22q12.3 LARGE TIMP3 - LARGE rs743793-T 0.54 6 x 10-7 (women) NR
12q24.31 DNAH10 DNAH10 rs1316952-T intron 0.87 9 x 10-7 (overall) NR
3q22.2 EPHB1 EPHB1 - PPP2R3A rs11712655-T 0.72 1 x 10-6 (men) NR
12q12 PRICKLE1 RPS27P21 - MRPS36P5 rs12316797-G 0.13 1 x 10-6 (women) NR
11q25 OPCML OPCML rs1567127-G intron 0.20 1 x 10-6 (women) NR
08/17/12 " Visceral fat 5,560 European ancestry female individuals, 4,997 European ancestry male individuals NA View full set of 40 SNPs Affymetrix & Illumina
[2.5 million] (imputed)
N
2p11.2 THNSL2 THNSL2 - MRPL45P1 rs1659258-A 0.92 2 x 10-8 (women) NR
2q35 IGFBP5 IGFBP5 rs2241193-C intron 0.89 1 x 10-7 (men) NR
8q21.13 LOC646486, FABP4 FABP12 rs16909318-C intron 0.88 7 x 10-7 (overall) NR
14q31.1 TSHR TSHR; LOC101928431 rs3783938-T intron;intron 0.07 8 x 10-7 (women) NR
1p36.32 KIAA0495, LRRC47, TP73, CCDC27 TP73 rs10910018-A UTR-3 0.04 2 x 10-6 (men) NR
5q14.3 HAPLN1 HAPLN1 rs3846635-G intron 0.08 2 x 10-6 (women) NR
1p36.32 KIAA0495,LRRC47,TP73,CCDC27 TP73 rs10910018-A UTR-3 0.04 2 x 10-6 (men) NR
3q26.1 WDR49 WDR49 rs7627289-A intron 0.22 2 x 10-6 (women) NR
12q24.21 TBX5 GLULP5 - TBX5 rs7294372-T 0.93 3 x 10-6 (men) NR
9q21.32 TLE1 TLE1 rs815847-G intron 0.36 3 x 10-6 (women) NR




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