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Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


Update (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. 


The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Read our recent article from Nucleic Acids Research.

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 in the Catalog 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. The scope of the GWAS Catalog is currently being expanded to include studies of large-scale targeted/non-genome-wide arrays, including the Metabochip, Immunochip and Exome arrays. This is currently in a pilot phase where prioritization of targeted and exome array studies for inclusion in the Catalog is by 1) relevance of the trait analyzed 2) user request.  

How to cite the NHGRI GWAS Catalog:
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington Z, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, and Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Research, 2017, Vol. 45 (Database issue): D896-D901.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

 

 

 

 





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
10/23/14 Mahajan A
February 09, 2014
Nat Genet
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Type 2 diabetes 12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls 21,491 European ancestry cases, 55,647 European ancestry controls 12q14.3 HMGA2 RPSAP52 rs2261181-T intron 0.09 4 x 10-8 1.16 [1.10-1.23] Affymetrix & Illumina
[2.5 million] (Imputed)
N
02/25/14 Cheng CY
August 08, 2013
Am J Hum Genet
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Axial length 12,531 European ancestry individuals 8,216 Asian ancestry individuals 12q14.3 HMGA2 HMGA2 - MIR6074 rs10400419-T 0.3837 2 x 10-7 .0562 [0.035-0.078] unit increase Illumina
[2.5 million] (Imputed)
N
11/15/13 Fatemifar G
May 23, 2013
Hum Mol Genet
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances.
Primary tooth development (number of teeth) 11,513 European ancestry individuals   12q14.3 HMGA2 HMGA2 rs17101923-G intron NR 1 x 10-10 .182 [0.13-0.24] unit increase Illumina
[2,446,724] (Imputed)
N
11/15/13 " Primary tooth development (time to first tooth eruption) 11,118 European ancestry individuals   12q14.3 HMGA2 HMGA2 rs17101923-G intron NR 6 x 10-11 .212 [0.15-0.28] unit decrease Illumina
[2,446,724] (Imputed)
N
09/12/13 Berndt SI
April 07, 2013
Nat Genet
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Height 8,097 European ancestry tall individuals, 8,099 European ancestry short individuals 4,872 European ancestry tall individuals, 4,831 European ancestry short individuals 12q14.3 HMGA2 HMGA2 rs1351394-T intron 0.49 7 x 10-32 1.26 [NR] Illumina & Affymetrix
[~2.8 millions] (Imputed)
N
02/28/13 Horikoshi M
December 02, 2012
Nat Genet
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
Birth weight Up to 26,836 European ancestry individuals Up to 42,519 European ancestry individuals 12q14.3 HMGA2 HMGA2 rs1042725-T UTR-3 0.50 1 x 10-19 .047 [0.037-0.057] gram decrease Illumina & Affymetrix (~2.7 million) imputed N
10/09/12 Shi Y
August 12, 2012
Nat Genet
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
Polycystic ovary syndrome 2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls 8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls 12q14.3 HMGA2 HMGA2 rs2272046-A intron 0.907 2 x 10-21 1.43 [NR] Affymetrix
[NR] (imputed)
N
06/21/12 Stein JL
April 15, 2012
Nat Genet
Identification of common variants associated with human hippocampal and intracranial volumes.
Brain structure 2,020 European ancestry neuropsychiatric disorder cases, 5,775 European ancestry controls 599 European ancestry neuropsychiatric disorder cases, 11,915 European ancestry controls, 143 European ancestry and African American neuropsychiatric disorder cases, 94 European ancestry and African American controls, 605 Hispanic controls 12q14.3 HMGA2 HMGA2 rs10784502-C intron 0.49 1 x 10-12 (Intracranial volume) 9006.71 [6525.78-11487.64] mm3 increase Affymetrix & Illumina
[NR] (imputed)
N
05/25/12 Taal HR
April 15, 2012
Nat Genet
Common variants at 12q15 and 12q24 are associated with infant head circumference.
Head circumference (infant) 10,768 European ancestry infants 8,321 European ancestry infants 12q14.3 HMGA2 HMGA2 rs1042725-T UTR-3 0.49 3 x 10-10 .065 [0.045-0.085] SD decrease Affymetrix & Illumina
[~2.4 million] (imputed)
N
11/25/11 Carty CL
October 21, 2011
Hum Mol Genet
Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
Height 8,149 African American ancestry female individuals Up to 20,809 African American and African ancestry individuals 12q14.3 HMGA2 HMGA2 - MIR6074 rs7968682-T 0.58 4 x 10-10 .043 [0.025-0.061] unit decrease Affymetrix
[855,034]
N
11/08/11 N'Diaye A
October 06, 2011
PLoS Genet
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
Height 20,427 African ancestry individuals Up to 16,436 African American individuals 12q14.3 HMGA2 HMGA2 rs7979673-T intron 0.32 7 x 10-10 .058 [0.038-0.078] unit decrease Affymetrix & Illumina
[3,310,998] (imputed)
N
10/04/11 Geller F
September 08, 2011
PLoS Genet
Genome-wide association study identifies four loci associated with eruption of permanent teeth.
Permanent tooth development 5,088 European ancestry females 2,994 European ancestry individuals, 161 individuals 12q14.3 HMGA2 HMGA2 - MIR6074 rs12424086-C 0.18 2 x 10-12 .111 [0.08-0.14] unit decrease Illumina
[521,741]
N
01/15/11 McDonough CW
December 08, 2010
Kidney Int
A genome-wide association study for diabetic nephropathy genes in African Americans.
Type 2 diabetes nephropathy 965 African American cases, 1,029 African American controls 709 African American cases, 690 African American controls 12q14.3 MSRB3, HMGA2 PCNPP3 - RPSAP52 rs2358944-G 0.77 4 x 10-6 1.33 [1.18-1.49] Affymetrix
[832,357]
N
10/24/12 Lango Allen H
September 29, 2010
Nature
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Height 133,653 European ancestry individuals 50,074 European ancestry individuals 12q14.3 HMGA2 HMGA2 rs1351394-T intron 0.49 2 x 10-65 .06 [NR] unit increase Affymetrix, Illumina
[2,834,208] (imputed)
N
07/12/10 Voight BF
June 27, 2010
Nat Genet
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
Type 2 diabetes 8,130 European ancestry cases, 38,987 European ancestry controls Up to 34,412 European ancestry cases, 59,925 European ancestry controls 12q14.3 HMGA2 RPSAP52 rs1531343-C intron 4 x 10-9 1.1 [1.07-1.14] Affymetrix & Illumina
[2,426,886] (imputed)
N
05/11/10 Liu JZ
April 01, 2010
Twin Res Hum Genet
Genome-wide association study of height and body mass index in Australian twin families.
Height 11,536 European ancestry individuals NA 12q14.3 HMGA2 HMGA2 rs8756-A UTR-3 0.51 4 x 10-7 .07 [0.03-0.11] SD decrease Illumina
[559,712] (imputed)
N
03/25/10 Pillas D
February 26, 2010
PLoS Genet
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
Primary tooth development (number of teeth) 5,752 European ancestry related individuals NA 12q14.3 HMGA2 HMGA2 - MIR6074 rs12424086-C 0.23 4 x 10-6 .22 [NR] % variance explained Illumina
[300,766]
N
03/25/10 " Primary tooth development (time to first tooth eruption) 5,919 European ancestry related individuals NA 12q14.3 HMGA2 HMGA2 - MIR6074 rs12424086-C 0.23 8 x 10-6 .29 [NR] % variance explained Illumina
[300,766]
N
08/07/09 Vasan RS
July 08, 2009
JAMA
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
Aortic root size 12,612 European ancestry individuals 4,094 European ancestry individuals 12q14.3 HMGA2 HMGA2 - MIR6074 rs4026608-C 0.38 2 x 10-9 .03 [0.02-0.04] cm decrease Affymetrix & Illumina
[~2.5 million] (imputed)
N
04/22/09 Soranzo N
April 03, 2009
PLoS Genet
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
Height 12,611 European ancestry individuals 7,187 European ancestry individuals 12q14.3 HMGA2 HMGA2 rs8756-? UTR-3 0.17 5 x 10-14 .08 [0.06-0.10] s.d. decrease Illumina
[229,216]
N
11/25/08 Gudbjartsson DF
April 06, 2008
Nat Genet
Many sequence variants affecting diversity of adult human height.
Height 30,968 European ancestry individuals 8,541 European ancestry individuals 12q14.3 HMGA2 HMGA2 rs8756-C UTR-3 0.52 2 x 10-16 6.6 [5.03-8.17] % s.d. taller Illumina and Affymetrix
[up to 304,226]
N
11/25/08 Lettre G
April 06, 2008
Nat Genet
Identification of ten loci associated with height highlights new biological pathways in human growth.
Height 15,821 European ancestry individuals Up to 17,801 European ancestry individuals 12q14.3 HMGA2 HMGA2 rs1042725-T UTR-3 0.49 3 x 10-20 .48 [0.58-1.09] cm shorter Affymetrix and Illumina
[2,260,683] (imputed)
N
11/25/08 Weedon MN
April 06, 2008
Nat Genet
Genome-wide association analysis identifies 20 loci that influence adult height.
Height 13,665 European ancestry individuals 16,482 European ancestry individuals 12q14.3 HMGA2 HMGA2 rs1042725-C UTR-3 0.49 3 x 10-18 .05 [0.03-0.08] s.d. taller - among males Affymetrix
[402,951]
N
11/25/08 Weedon MN
September 02, 2007
Nat Genet
A common variant of HMGA2 is associated with adult and childhood height in the general population.
Height 4,921 European ancestry individuals 19,064 European ancestry adult individuals, 6,827 European ancestry children 12q14.3 HMGA2 HMGA2 rs1042725-C UTR-3 0.51 6 x 10-16 .4 [NR] cm per copy in adult height Affymetrix
[364,301]
N




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