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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
04/26/14 He J
October 28, 2013
Circ Cardiovasc Genet
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
Blood pressure measurement (cold pressor test) 1,881 Han Chinese ancestry individuals 698 Han Chinese ancestry individuals 7q22.1 FBXL13 FBXL13 rs17135875-C intron 0.01 4 x 10-9 (MAP, Time 0) 3.44 [2.30-4.58] mmHg decrease Affymetrix
[2,216,774] (Imputed)
N
2q37.1 TRPM8 MSL3P1 - TRPM8 rs7577262-A 0.37 3 x 10-8 (SBP, Time 0) 1.71 [1.1-2.32] mmHg decrease
2q31.2 CCDC141 CCDC141 rs11693319-T intron 0.02 2 x 10-7 (SBP) 4.72 [2.94-6.50] mmHg decrease
22q12.3 LARGE LARGE-AS1 - ISX rs7286472-G 0.02 3 x 10-7 (DBP) 2.25 [1.39-3.11] mmHg decrease
2q37.1 TRPM8 MSL3P1 - TRPM8 rs7577262-A 0.37 7 x 10-7 (MAP, Time 0) 1 [0.61-1.39] mmHg decrease
7q22.1 FBXL13 FBXL13 rs17135875-C intron 0.01 1 x 10-6 (DBP, Time 0) 2.81 [1.67-3.95] mmHg decrease
7q22.1 FBXL13 FBXL13 rs17135875-C intron 0.01 3 x 10-6 (SBP, Time 0) 4.81 [2.81-6.81] mmHg decrease
04/26/14 " Blood pressure measurement (high sodium and potassium intervention) 1,836 Han Chinese ancestry individuals 654 Han Chinese ancestry individuals View full set of 13 SNPs Affymetrix
[2,216,774] (Imputed)
N
16q12.1 SALL1 UNGP1 - HNRNPA1P48 rs2030114-A 0.01 7 x 10-13 (DBP, during intervention) 3.14 [2.28-4.00] mmHg decrease
6q14.1 IRAK1BP1 MEI4 - IRAK1BP1 rs16890334-C 0.06 1 x 10-10 (SBP, during intervention) 5.38 [3.73-7.03] mmHg decrease
2q31.1 CDCA7 CDCA7 - RPL5P7 rs10930597-T 0.05 1 x 10-8 (MAP, during intervention) 3.48 [2.28-4.68] mmHg decrease
2q37.1 ARL4C RPS20P12 - ARL4C rs11887188-T 0.03 2 x 10-8 (DBP, during intervention) 3.28 [2.14-4.42] mmHg decrease
2q31.1 CDCA7 CDCA7 - RPL5P7 rs10930597-T 0.05 4 x 10-8 (DBP, during intervention) 3.2 [2.06-4.34] mmHg decrease
4q26 ARSJ ARSJ rs4460079-C intron 0.21 2 x 10-7 (SBP, during intervention) 2.33 [1.45-3.21] mmHg decrease
17q24.2 APOH APOH rs11867410-C nearGene-5 0.02 3 x 10-7 (DBP, during intervention) 3.96 [2.43-5.49] mmHg decrease
17q24.2 APOH APOH rs11867410-C nearGene-5 0.02 3 x 10-7 (MAP, during intervention) 4.21 [2.58-5.84] mmHg decrease
6q14.1 IRAK1BP1 MEI4 - IRAK1BP1 rs16890334-C 0.06 5 x 10-7 (MAP, during intervention) 3.2 [1.95-4.45] mmHg decrease
2q37.1 ARL4C RPS20P12 - ARL4C rs11887188-T 0.03 1 x 10-6 (MAP, during intervention) 2.98 [1.76-4.20] mmHg decrease
04/26/14 " Blood pressure measurement (high sodium intervention) 1,840 Han Chinese ancestry individuals 659 Han Chinese ancestry individuals View full set of 11 SNPs Affymetrix
[2,216,774] (Imputed)
N
6q14.1 IRAK1BP1 MEI4 - IRAK1BP1 rs16890334-C 0.06 4 x 10-9 (SBP, during intervention) 5.43 [3.63-7.23] mmHg decrease
8p23.2 CSMD1 MIR7160 - CSMD1 rs2627282-A 0.02 3 x 10-7 (MAP, response to intervention) 2.33 [1.45-3.21] mmHg decrease
11p11.2 ALX4 ALX4 - CD82 rs11037965-T 0.07 3 x 10-7 (MAP, response to intervention) 1.4 [0.87-1.93] mmHg decrease
4q26 ARSJ ARSJ rs7658266-T intron 0.21 3 x 10-7 (SBP, during intervention) 2.35 [1.45-3.25] mmHg decrease
11p15.5 KCNQ1 KCNQ1; KCNQ1OT1 rs10832417-T intron;ncRNA 0.31 4 x 10-7 (MAP, response to intervention) 1.05 [0.64-1.46] mmHg decrease
3q11.2 NSUN3 ARMC10P1 - WDR82P1 rs13067306-A 0.01 4 x 10-7 (DBP, during intervention) 4.86 [2.98-6.74] mmHg increase
8p23.2 CSMD1 MIR7160 - CSMD1 rs2627282-A 0.02 6 x 10-7 (DBP, response to intervention) 2.29 [1.39-3.19] mmHg decrease
11p15.5 KCNQ1 KCNQ1; KCNQ1OT1 rs10832417-T intron;ncRNA 0.31 1 x 10-6 (SBP, response to intervention) 1.3 [0.77-1.83] mmHg decrease
11p11.2 ALX4 ALX4 - CD82 rs11037965-T 0.07 2 x 10-6 (DBP, response to intervention) 1.4 [0.83-1.97] mmHg decrease
6q14.1 IRAK1BP1 MEI4 - IRAK1BP1 rs16890334-C 0.06 2 x 10-6 (MAP, during intervention) 3.39 [1.98-4.80] mmHg decrease
04/26/14 " Blood pressure measurement (low sodium intervention) 1,850 Han Chinese ancestry individuals 660 Han Chinese ancestry individuals 13q22.1 PIBF1 PIBF1 rs8002688-T intron 0.04 2 x 10-9 (SBP, response to intervention) 2.04 [1.37-2.71] mmHg increase Affymetrix
[2,216,774] (Imputed)
N
1p21.1 PRMT6 SEPT2P1 - NDE1P1 rs1330225-C 0.01 7 x 10-9 (MAP, during intervention) 5.16 [3.42-6.90] mmHg decrease
1p21.1 PRMT6 SEPT2P1 - NDE1P1 rs1330225-C 0.01 1 x 10-8 (DBP, during intervention) 5.48 [3.60-7.36] mmHg decrease
2q31.1 CDCA7 CDCA7 - RPL5P7 rs10930597-T 0.05 4 x 10-8 (MAP, during intervention) 3.37 [2.17-4.57] mmHg decrease
8q12.1 FAM110B RPL30P10 - FAM110B rs10504249-G 0.02 1 x 10-7 (DBP, response to intervention) 3.22 [2.02-4.42] mmHg increase
6q14.1 IRAK1BP1 MEI4 - IRAK1BP1 rs16890334-C 0.06 2 x 10-7 (SBP, during intervention) 4.32 [2.67-5.97] mmHg decrease
8q12.1 FAM110B RPL30P10 - FAM110B rs10504249-G 0.02 4 x 10-7 (MAP, response to intervention) 2.95 [1.81-4.09] mmHg increase
2q31.1 CDCA7 CDCA7 - RPL5P7 rs10930597-T 0.05 5 x 10-7 (DBP, during intervention) 3.11 [1.89-4.33] mmHg decrease
5q21.2 RAB9BP1 NUDT12 - RAB9BP1 rs13178964-G 0.05 5 x 10-7 (SBP, during intervention) 3.42 [2.09-4.75] mmHg decrease
2q31.1 CDCA7 CDCA7 - RPL5P7 rs10930597-T 0.05 7 x 10-6 (SBP, during intervention) 3.72 [2.09-5.35] mmHg decrease




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