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

To view the PDF(s) on this page you will need Adobe Reader. Download Adobe Reader

 

 

 





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
08/07/12 Kennedy RB
May 19, 2012
Hum Genet
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
Immune reponse to smallpox (secreted IFN-alpha) Up to 512 European ancestry individuals, up to 199 African American individuals NA View full set of 32 SNPs Illumina
[NR]
N
2p14 WDR92 WDR92 rs4078978-A intron 2 x 10-18 (AA) NR
5q31.2 ECSM2, TMEM173 ECSCR - TMEM173 rs13181561-G 3 x 10-14 (EA) NR
Xq27.3 LOC100128265 ELL2P4 - CXorf51B rs381365-A 2 x 10-12 (AA) NR
4q31.22 ZNF827 ZNF827 rs2048161-A intron 6 x 10-12 (AA) NR
14q23.1 MNAT1 MNAT1 rs6573333-A intron 3 x 10-10 (EA) NR
Xq28 MAMLD1 MAMLD1 rs17252936-G intron 6 x 10-10 (AA) NR
12q13.3 TIMELESS TIMELESS rs11171846-A intron 6 x 10-10 (AA) NR
1p13.2 KCND3 KCND3 rs12044963-A intron 9 x 10-10 (AA) NR
3q25.2 LOC152118 RAP2B - C3orf79 rs6778194-C 2 x 10-9 (AA) NR
2q36.3 COL4A4 COL4A4 rs2272205-G intron 3 x 10-9 (AA) NR
08/07/12 " Immune reponse to smallpox (secreted IL-10) Up to 512 European ancestry individuals, up to 199 African American individuals NA 4q32.3 SPOCK3 RNA5SP171 - PHBP14 rs13111850-G 3 x 10-11 (AA) NR Illumina
[NR]
N
7q21.3 DYNC1I1 DYNC1I1 rs13231718-C intron 5 x 10-9 (AA) NR
7q33 LOC100129730 AGBL3 rs17231212-G intron 2 x 10-8 (AA) NR
16p12.3 DNAH3 DNAH3 rs16970881-A intron 1 x 10-7 (EA) NR
5q14.3 LOC100131236 PCBP2P3 - LDHBP3 rs10055544-A 1 x 10-7 (AA) NR
1p32.2 DAB1 DAB1 rs6679454-G intron 3 x 10-7 (AA) NR
08/07/12 " Immune reponse to smallpox (secreted IL-12p40) Up to 512 European ancestry individuals, up to 199 African American individuals NA 6p22.3 LOC100131805 RPL6P18 - SPTLC1P2 rs7771911-A 2 x 10-12 (EA) NR Illumina
[NR]
N
7q31.31 KCND2 GTF3AP6 - KCND2 rs17142462-A 3 x 10-9 (EA) NR
11q23.1 BCO2 BCO2 rs7105056-A intron 1 x 10-8 (EA) NR
4q31.23 ARHGAP10 ARHGAP10 rs7658486-A intron 1 x 10-8 (EA) NR
5q31.2 GFRA3 GFRA3 rs11242417-C intron 6 x 10-8 (EA) NR
5q23.1 PRR16 PRR16 rs1584468-A intron 9 x 10-8 (EA) NR
11p12 LOC100132631 RPL7AP56 - RPL18P8 rs11034653-A 2 x 10-7 (EA) NR
7q11.23 FKBP6, TRIM50 FKBP6; LOC101930310 rs6943090-A intron;intron 3 x 10-7 (AA) NR
7q21.3 COL1A2 COL1A2 rs3736638-A intron 3 x 10-7 (EA) NR
17p12 ADORA2B MEIS3P1 - ADORA2B rs859267-C 3 x 10-7 (AA) NR
08/07/12 " Immune reponse to smallpox (secreted IL-1beta) Up to 512 European ancestry individuals, up to 199 African American individuals NA View full set of 13 SNPs Illumina
[NR]
N
10q22.1 SUPV3L1, VPS26A SUPV3L1 rs10998624-A nearGene-5 1 x 10-9 (EA) NR
10p14 LOC389936 LINC00709 - HSP90AB7P rs12247397-G 3 x 10-9 (AA) NR
22q13.33 FLJ44385 - rs17000918-A 4 x 10-9 (AA) NR
4q13.3 MTHFD2L MTHFD2L rs16850864-A intron 7 x 10-9 (EA) NR
4q13.3 EPGN, MTHFD2L MTHFD2L - EPGN rs16850885-A 7 x 10-9 (EA) NR
13q32.3 SLC15A1 SLC15A1 rs9582259-C intron 3 x 10-8 (EA) NR
7p15.2 LOC392008 RPL35P4 - EIF4HP1 rs11564024-C 3 x 10-8 (AA) NR
7p21.3 COL28A1 COL28A1 rs17168526-G cds-synon 6 x 10-8 (AA) NR
3q22.1 RAB6B RAB6B rs9835973-A intron 7 x 10-8 (EA) NR
8q12.1 XKR4 XKR4 rs12542677-A intron 2 x 10-7 (AA) NR
08/07/12 " Immune reponse to smallpox (secreted IL-2) Up to 512 European ancestry individuals, up to 199 African American individuals NA View full set of 17 SNPs Illumina
[NR]
N
6q23.3 GAPDHL19 LINC00271 rs9389316-A intron 7 x 10-13 (EA) NR
3p21.1 RFT1 RFT1 rs13088281-A intron 3 x 10-11 (AA) NR
1q42.3 TOMM20 RNY4P16 - TOMM20 rs908327-C 5 x 10-10 (AA) NR
3p21.1 ITIH3, ITIH4 ITIH3 - ITIH4 rs17331151-A 2 x 10-9 (AA) NR
11q22.1 CNTN5 CNTN5 rs11223581-G intron 9 x 10-9 (AA) NR
12p13.1 GRIN2B GRIN2B rs2268118-A intron 1 x 10-8 (EA) NR
17q21.33 NGFR EIF4EP2 - NGFR rs16948200-A 2 x 10-8 (AA) NR
7q11.22 AUTS2 MTND4P3 - RNA5SP231 rs1403155-A 2 x 10-8 (EA) NR
2q23.2 LOC100129594 TXNP5 - FAM8A3P rs10432496-A 6 x 10-8 (AA) NR
14q21.3 ATP5GP2 RPL18P1 - ATP5G2P2 rs11845208-G 1 x 10-7 (AA) NR
08/07/12 " Immune reponse to smallpox (secreted TNF-alpha) Up to 512 European ancestry individuals, up to 199 African American individuals NA 12q12 IRAK4, PUS7L IRAK4; PUS7L rs4251424-A intron;nearGene-5 2 x 10-8 (AA) NR Illumina
[NR]
N
2p21 CAMKMT CAMKMT rs13414205-A intron 7 x 10-8 (AA) NR
22q12.3 LOC441996 LARGE-AS1 - ISX rs738968-C 8 x 10-8 (EA) NR
3p21.31 SLC6A20 SLC6A20 rs758386-A cds-synon 2 x 10-7 (AA) NR
2q36.3 C2orf83, LOC729968 C2orf83 rs11889798-A intron 4 x 10-7 (EA) NR
2p13.1 SLC4A5 SLC4A5 rs13006863-A intron 5 x 10-7 (EA) NR
08/07/12 " Immune response to smallpox vaccine (IL-6) Up to 512 European ancestry individuals, 199 African American individuals NA 18q21.2 MEX3C MEX3C rs8096445-A intron 9 x 10-9 (AA) NR Illumina
[NR]
N
5q11.2 PDE4D PDE4D rs17444059-G intron 2 x 10-8 (AA) NR
2p22.3 LTBP1 LINC00486 rs6728021-G intron 4 x 10-8 (AA) NR
3q28 LOC100129725 PYDC2 - FGF12 rs1516489-C 8 x 10-8 (AA) NR
9p21.1 NDUFB6, TOPORS NDUFB6; TOPORS-AS1 rs17290760-G intron;intron 1 x 10-7 (AA) NR
1p36.12 CDC42 LINC00339 - CDC42 rs2501276-A 2 x 10-7 (AA) NR
6q22.33 C6orf190 C6orf58 - THEMIS rs17299841-C 2 x 10-7 (AA) NR
8p23.1 BLK BLK rs2255327-A intron 3 x 10-7 (AA) NR
5q34 ODZ2 TENM2 rs2973662-A intron 5 x 10-7 (AA) NR




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