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

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
11/05/13 Kamatani Y
February 07, 2010
Nat Genet
Genome-wide association study of hematological and biochemical traits in a Japanese population.
Hematological and biochemical traits Up to 14,402 Japanese individuals NA View full set of 29 SNPs Illumina
[561,583]
N
9q34.2 ABO ABO - SURF6 rs495828-T 0.28 4 x 10-59 (ALP) .308 [0.27-0.35] unit decrease
16q13 CETP HERPUD1 - CETP rs3764261-A 0.21 5 x 10-29 (HDL) .254 [0.21-0.3] unit increase
12p13.31 CD163 CD163 - GAPDHP31 rs7136716-G 0.39 3 x 10-26 (CK) .165 [0.13-0.2] unit increase
22q11.23 GGT1 GGT1 rs5751902-T intron 0.37 8 x 10-20 (GGT) .172 [0.13-0.21] unit decrease
NA FAM23A,MRC1L1,FAM23B,MRC1 NA rs2477664-T 0.44 1 x 10-16 (AST) .099 [0.075-0.123] unit decrease
15q21.3 LIPC LIPC; LOC102724766 rs1077834-T intron;intron 0.49 1 x 10-14 (HDL) .14 [0.1-0.18] unit decrease
1p36.12 ALPL ALPL rs2242420-T UTR-3 0.18 5 x 10-13 (ALP) .163 [0.12-0.21] unit increase
22q13.31 PNPLA3,SAMM50,PARVB PNPLA3 rs2896019-G intron 0.45 2 x 10-12 (AST) .085 [0.061-0.109] unit decrease
22q13.31 PNPLA3,SAMM50,PARVB PNPLA3 rs2896019-G intron 0.45 2 x 10-12 (ALT) .085 [0.061-0.109] unit increase
3q27.3 Intergenic BCL6 - LPP-AS2 rs9820070-C 0.31 1 x 10-11 (BUN) .087 [0.062-0.112] unit decrease
09/04/13 " Mean corpuscular hemoglobin Up to 14,362 Japanese ancestry individuals NA View full set of 15 SNPs Illumina
[561,583]
N
6q23.3 HBS1L,MYB MIR3662 - MYB rs7775698-T 0.35 3 x 10-66 .211 [0.19-0.23] unit increase
4q12 PDGFRA,HK1 PDGFRA - KIT rs218237-T 0.27 3 x 10-25 .136 [0.11-0.16] unit increase
22q12.3 TMPRSS6 TMPRSS6 rs855791-G missense 0.44 5 x 10-25 .122 [0.098-0.146] unit increase
6p21.1 USP49,MED20,BYSL,CCND3 CCND3 rs3218097-A intron 0.19 2 x 10-20 .139 [0.11-0.17] unit decrease
10q11.21 ALOX5,MARCH8,ANUBL1,FAM21C,AGAP4 MARCH8 rs2279434-T intron 0.12 4 x 10-12 .128 [0.093-0.163] unit increase
3q29 TFRC,ZDHHC19 LINC00885 - ZDHHC19 rs4916483-C 0.44 4 x 10-11 .078 [0.054-0.102] unit decrease
9p24.1 RCL1 RCL1 rs2236496-C intron 0.47 6 x 10-11 .077 [0.053-0.101] unit decrease
3p24.2 THRB THRB rs9310736-A intron 0.26 4 x 10-10 .084 [0.059-0.109] unit decrease
10q11.23 MSMB,NCOA4,TIMM23 TIMM23 rs7085433-A ncRNA 0.15 6 x 10-10 .102 [0.071-0.133] unit increase
1q31.3 ATP6V1G3,PTPRC ATP6V1G3 - PTPRC rs12127588-A 0.21 7 x 10-10 .09 [0.061-0.119] unit increase
09/04/13 " Mean corpuscular hemoglobin concentration 14,377 Japanese ancestry individuals NA 22q12.3 TMPRSS6 TMPRSS6 rs855791-G missense 0.44 8 x 10-14 .089 [0.065-0.113] unit increase Illumina
[561,583]
N
16q24.3 CDT1 FLJ40448 - CDT1 rs837763-C 0.38 4 x 10-13 .088 [0.064-0.112] unit increase
6q23.3 HBS1L,MYB MIR3662 - MYB rs7775698-T 0.35 6 x 10-12 .085 [0.061-0.109] unit increase
5p15.33 SLC12A7 SLC12A7 rs4580814-T nearGene-5 0.26 5 x 10-10 .083 [0.058-0.108] unit decrease
12q24.12 ALDH2 ALDH2 rs671-A missense 0.26 7 x 10-10 .083 [0.058-0.108] unit decrease
1q22 BGLAP,PAQR6,SMG5,TMEM79,C1orf85,VHLL,CCT3,C1orf182 SMG5; TMEM79 rs6684514-A intron;missense 0.21 3 x 10-9 .086 [0.057-0.115] unit decrease
9q34.2 ABO ABO rs8176746-T missense 0.18 4 x 10-8 .084 [0.055-0.113] unit increase
09/04/13 " Mean corpuscular volume 14,364 Japanese ancestry individuals NA View full set of 17 SNPs Illumina
[561,583]
N
6q23.3 HBS1L,MYB MIR3662 - MYB rs7775698-T 0.35 3 x 10-56 .194 [0.17-0.22] unit increase
4q12 PDGFRA,HK1 PDGFRA - KIT rs218237-T 0.27 2 x 10-29 .147 [0.12-0.17] unit increase
4q12 KIT PDGFRA - KIT rs172629-C 0.74 1 x 10-27 .698 [0.573-0.824] unit decrease
6p21.1 USP49,MED20,BYSL,CCND3 CCND3 rs3218097-A intron 0.19 4 x 10-27 .162 [0.13-0.19] unit decrease
22q12.3 TMPRSS6 TMPRSS6 rs855791-G missense 0.44 1 x 10-15 .095 [0.071-0.119] unit increase
9p24.1 RCL1 RCL1 rs2236496-C intron 0.47 3 x 10-14 .09 [0.066-0.114] unit decrease
10q11.21 ALOX5,MARCH8,ANUBL1,FAM21C,AGAP4 MARCH8 rs2279434-T intron 0.12 3 x 10-11 .123 [0.088-0.158] unit increase
6q24.1 CITED2 CITED2 - ATP5F1P6 rs632057-G 0.25 1 x 10-9 .082 [0.057-0.107] unit decrease
10q11.23 MSMB,NCOA4,TIMM23 TIMM23 rs7085433-A ncRNA 0.15 7 x 10-9 .095 [0.064-0.126] unit increase
22q11.21 HIC2,UBE2L3 UBE2L3 rs4821112-A intron 0.47 1 x 10-8 .067 [0.043-0.091] unit decrease
09/04/13 " Platelet counts 14,806 Japanese ancestry individuals NA 12q24.12 SH2B3 SH2B3 rs739496-A UTR-3 0.16 5 x 10-19 .141 [0.11-0.17] unit decrease Illumina
[561,583]
N
6q23.3 HBS1L,MYB MIR3662 - MYB rs7775698-T 0.34 3 x 10-14 .093 [0.069-0.117] unit increase
9p24.1 AK3 AK3 - ECM1P1 rs385893-C 0.76 3 x 10-13 5.928 [4.344-7.507] unit increase
9p24.1 RCL1 AK3 - ECM1P1 rs385893-T 0.25 3 x 10-13 .099 [0.072-0.126] unit decrease
17p13.2 GP1BA GP1BA rs6065-T missense 0.12 2 x 10-12 .124 [0.089-0.159] unit increase
3q27.1 THPO,CHRD THPO rs6141-T UTR-3 0.45 5 x 10-11 .076 [0.052-0.100] unit increase
6p21.31 BAK1 BAK1 rs5745568-T nearGene-5 0.23 7 x 10-11 .09 [0.063-0.117] unit increase
09/04/13 " Red blood cell count 14,392 Japanese ancestry individuals NA 6q23.3 HBS1L,MYB MIR3662 - MYB rs7775698-T 0.35 7 x 10-48 .179 [0.16-0.20] unit decrease Illumina
[561,583]
N
4q12 PDGFRA,HK1 PDGFRA - KIT rs218237-T 0.27 2 x 10-17 .111 [0.086-0.136] unit decrease
9q34.2 ABO ABO - SURF6 rs495828-T 0.28 3 x 10-12 .091 [0.066-0.116] unit decrease
6p21.1 USP49,MED20,BYSL,CCND3 CCND3 rs3218097-T intron 0.19 1 x 10-10 .097 [0.068-0.126] unit increase
12p13.32 CCND2 RPL18P9 - CCND2 rs11611647-C 0.37 6 x 10-9 .071 [0.047-0.095] unit decrease
6q21 C6orf182,CD164 CCDC162P - RPL7P28 rs11966072-G 0.1 7 x 10-9 .114 [0.075-0.153] unit decrease
5p15.33 TERT TERT rs2736100-G intron 0.4 3 x 10-8 .067 [0.043-0.091] unit increase
2p21 PRKCE PRKCE rs10495928-G intron 0.17 4 x 10-8 .087 [0.056-0.118] unit decrease
09/04/13 " Triglycerides 8,993 Japanese ancestry individuals NA 11q23.3 APOA1,APOC3,APOA4,APOA5 RPL15P15 - BUD13 rs7350481-G 0.43 1 x 10-49 .241 [0.21-0.27] unit increase Illumina
[561,583]
N
8p21.3 LPL LPL - RPL30P9 rs10096633-T 0.12 9 x 10-14 .169 [0.12-0.21] unit decrease
2p23.3 GCKR GCKR rs1260326-C missense 0.45 1 x 10-11 .101 [0.072-0.13] unit decrease
1p31.3 ANGPTL3 DOCK7 rs10889353-C intron 0.14 2 x 10-9 .126 [0.085-0.167] unit decrease
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954029-T 0.53 3 x 10-7 .076 [0.047-0.105] unit decrease
7q11.23 MIXIPL BAZ1B rs714052-G intron 0.11 3 x 10-7 .123 [0.076-0.170] unit decrease
09/04/13 " Urate levels 8,868 Japanese ancestry individuals NA 11q13.1 SLC22A12 NRXN2 rs506338-C intron 0.17 2 x 10-31 .229 [0.19-0.27] unit decrease Illumina
[561,583]
N
4p16.1 SLC2A9 SLC2A9 rs11722228-T intron 0.45 7 x 10-24 .164 [0.13-0.2] unit increase
4q22.1 ABCG2 ABCG2 rs4148155-G intron 0.3 1 x 10-13 .121 [0.09-0.152] unit increase
2q31.1 LRP2 LRP2 rs2544390-C intron 0.49 4 x 10-8 .082 [0.053-0.111] unit decrease
2p23.3 GCKR GCKR rs780094-T intron 0.57 5 x 10-6 .069 [0.040,0.098] unit increase
09/04/13 " White blood cell count 14,677 Japanese ancestry individuals NA 17q21.1 GSDMA,PSMD3,CSF3,MED24 PSMD3 rs4065321-T intron 0.32 3 x 10-14 .094 [0.070-0.118] unit decrease Illumina
[561,583]
N
6q23.3 HBS1L,MYB MIR3662 - MYB rs4895441-G 0.37 2 x 10-9 .073 [0.049-0.097] unit decrease
NA CDSN,PSORS1C1 NA rs3094212-C 0.35 7 x 10-9 .07 [0.046-0.094] unit increase
7q21.2 CDK6 CDK6 rs445-T intron 0.32 2 x 10-8 .07 [0.045-0.095] unit decrease
12q15 RAP1B,NUP107,SLC35E3 RPSAP12 - RAP1B rs12313946-C 0.47 3 x 10-8 .065 [0.041-0.089] unit increase




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