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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
11/15/14 Guan W
May 13, 2014
Circ Cardiovasc Genet
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) 8,631 European ancestry individuals NA 8p23.2 CSMD1 MIR7160 - CSMD1 rs10097215-T 0.122 2 x 10-6 .01 [NR] unit decrease Illumina & Affymetrix
[~2.5 Million] (imputed)
N
11/08/14 Cobb J
April 08, 2014
Pharmacogenomics J
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
Response to methotrexate in juvenile idiopathic arthritis 694 European ancestry child cases NA 8p23.2 CSMD1 CSMD1 rs4395908-C intron NR 1 x 10-6 (CHAQ) .27 [0.17-0.37] unit decrease Illumina
[586,062]
N
10/06/14 Xie T
January 17, 2014
Neurobiol Aging
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
Amyotrophic lateral sclerosis (sporadic) 250 Han Chinese ancestry cases, 250 Han Chinese ancestry controls NA NA CSMD1 - kgp12078483-? 2 x 10-7 NR Illumina
[859,311] (pooled)
N
05/03/14 Sleiman P
October 29, 2013
Sci Rep
GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus.
Schizophrenia, schizoaffective disorder or bipolar disorder 11,985 European, African American, Asian, other and unknown ancestry schizophrenia cases, 377 European, African American, Asian, other and unknown ancestry schizoaffective disorder cases, 1,032 bipolar disorder cases, 34,676 European, African American, Asian, other and unknown ancestry controls 2652 individuals 8p23.2 CSMD1 CSMD1 rs6558872-? intron 0.571 5 x 10-8 NR Illumina & Affymetrix
[NR] (imputed)
N
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 (high sodium intervention) 1,840 Han Chinese ancestry individuals 659 Han Chinese ancestry individuals 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 Affymetrix
[2,216,774] (Imputed)
N
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
03/25/14 Bhatnagar P
September 13, 2013
PLoS One
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
Systolic blood pressure in sickle cell anemia 1617 African American cases NA 8p23.2 CSMD1 CSMD1 rs1442407-T intron 0.1 8 x 10-6 1.98 [1.12-2.84] mmHg increase Illumina
[1,019,297] (imputed)
N
03/04/14 Liu CT
August 15, 2013
PLoS Genet
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
Waist-hip ratio up to 19,744 African American individuals Up to 7,606 African American individuals 8p23.2 CSMD1 RPL23AP54 - MCPH1 rs11777345-C 0.9 3 x 10-6 (BMI_men) .19 [0.11-0.27] unit increase Affymetrix & Illumina
[3.2 million] Imputed
N
03/13/14 McGue M
August 14, 2013
Behav Genet
A genome-wide association study of behavioral disinhibition.
Illicit drug use 7,188 European ancestry individuals NA 8p23.2 CSMD1 CSMD1 rs13259289-G intron 0.399 6 x 10-6 8.675 [NR] unit decrease Illumina
[527,829]
N
03/09/14 Teumer A
August 14, 2013
J Clin Periodontol
Genome-wide association study of chronic periodontitis in a general German population.
Periodontitis (CDC/AAP) up to 3,915 European ancestry individuals NA 8p23.2 CSMD1 CSMD1 rs28455997-T missense 0.84 3 x 10-6 (Age 20-60 years) 1.48 [1.26-1.75] Affymetrix & Illumina
[up to 17,585,496] (Imputed)
N
8p23.2 CSMD1 CSMD1 rs1540507-? intron 0.78 9 x 10-6 (Age 20-81 years) 1.47 [1.23-1.75]
11/15/13 Gong J
May 21, 2013
Nutrients
Genome-wide association study of serum selenium concentrations.
Serum selenium levels 582 European ancestry individuals 621 European ancestry individuals 8p23.2 CSMD1 CSMD1 rs4875284-? intron NR 3 x 10-6 .201 [0.12-0.29] mg/dL decrease Illumina
[2,474,333]
N
11/14/13 Low SK
May 04, 2013
Cancer Sci
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin) 261 Japanese ancestry cases, 262 Japanese ancestry controls NA 8p23.2 CSMD1 CSMD1 rs1714746-G intron 0.435 7 x 10-6 (Recessive model) 1.61 [1.261-2.056] Illumina
[733,202]
N
08/07/13 Wade TD
April 09, 2013
Int J Eat Disord
Genetic variants associated with disordered eating.
Eating disorders (purging via substances) 600 European ancestry female cases, 1,921 European ancestry female controls NA 8p23.2 CSMD1 CSMD1 rs142816172-C intron 0.976 6 x 10-6 .273 [0.16-0.39] unit decrease Illumina
[6,150,213] (Imputed)
N
06/26/13 Sherva R
March 24, 2013
Alzheimers Dement
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
Alzheimer's disease (cognitive decline) 303 European ancestry cases   8p23.2 CSMD1 CSMD1 rs73660619-? intron 0.06 8 x 10-7 .26 unit decrease Illumina
[NR] (Imputed)
N
06/20/13 Albertsen HM
March 05, 2013
PLoS One
Genome-wide association study link novel loci to endometriosis.
Endometriosis 1,514 European ancestry casses, 12,660 European ancestry controls 505 European ancestry cases, 1,811 European ancestry controls 8p23.2 CSMD1, LOC100287015 RSL24D1P7 - RPL23AP54 rs7816936-A 0.446 6 x 10-6 1.1628 [NR] Illumina
[580,699]
N
06/06/13 Smoller JW
February 27, 2013
Lancet
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) 6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls NA 8p23.2 CSMD1 CSMD1 rs10503253-? intron 0.193 4 x 10-8 (Modelling analysis) NR NR
[1,252,901] (imputed)
N
04/09/13 Comuzzie AG
December 04, 2012
PLoS One
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Obesity-related traits 815 Hispanic children from 263 families NA 8p23.2 CSMD1 CSMD1 rs2449215-G intron 0.38 7 x 10-7 (Light activity ) .04 [NR] %awake time increase Illumina
[899,892]
N
8p23.2 CSMD1 CSMD1 rs2551043-G intron 0.234 7 x 10-6 (Vigorous activity ) .03 [NR] min/d increase
8p23.2 CSMD1 CSMD1 rs17394429-A intron 0.11 7 x 10-6 (Hcy ) .03 [NR] µmol/L increase
08/14/12 Bergen SE
June 12, 2012
Mol Psychiatry
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
Schizophrenia 2,111 European ancestry cases, 2,535 European ancestry controls 11,271 European ancestry cases, 14,601 European ancestry controls 8p23.2 CSMD1 CSMD1 rs10503256-? intron NR 9 x 10-7 1.1 [NR] Affymetrix
[745,006]
N
07/04/12 Ovsyannikova IG
April 25, 2012
Vaccine
Genome-wide association study of antibody response to smallpox vaccine.
Immune response to smallpox vaccine (IL-6) 217 African American individuals, 580 European ancestry individuals, 217 Hispanic individuals NA 8p23.2 CSMD1 CSMD1 rs17070309-? intron 5 x 10-7 (AA) NR Illumina
[NR]
N
04/27/12 Imboden M
March 15, 2012
J Allergy Clin Immunol
Genome-wide association study of lung function decline in adults with and without asthma.
Pulmonary function decline 1,441 European ancestry asthma cases, 2,677 European ancestry controls 1,160 European ancestry asthma cases, 10,858 European ancestry controls 8p23.2 CSMD1 CSMD1 rs2623702-? intron NR 9 x 10-6 (FEV1/FVC decline in asthmatics) .3236 [0.18-0.47] unit decrease Illumina
[~2.5 million] (imputed)
N
10/17/11 Ripke S
September 18, 2011
Nat Genet
Genome-wide association study identifies five new schizophrenia loci.
Schizophrenia 9,394 European ancestry cases, 12,462 European ancestry controls 8,442 European ancestry cases, 21,397 European ancestry controls 8p23.2 CSMD1 CSMD1 rs10503253-A intron 0.19 2 x 10-8 1.16 [1.11-1.21] Affymetrix & Illumina
[1,252,901] (imputed)
N
09/27/11 Irvin MR
August 25, 2011
PLoS One
Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study.
Insulin resistance/response 1,040 African American individuals NA 8p23.2 CSMD1 CSMD1 rs2407314-C intron 0.47 8 x 10-6 (HOMA-IR) 9 [5.00 - 12.00] % decrease Affymetrix
[872,243]
N
04/07/11 Lettre G
February 10, 2011
PLoS Genet
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
Coronary heart disease 8,090 African American individuals 8,849 African American or African-Caribbean ancestry individuals 8p23.2 CSMD1 CSMD1 rs4875320-A intron 0.82 6 x 10-6 (HDL-C) .0999 [0.06-0.14] SD decrease Affymetrix
[~2.74 million] (imputed)
N
09/22/10 Kong X
August 13, 2010
Am J Respir Crit Care Med
Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema.
Emphysema-related traits 2,383 European ancestry cases NA 8p23.2 CSMD1 MIR7160 - CSMD1 rs641525-T 0.95 5 x 10-7 (qualitative) 2.19 [NR] Illumina
[499,578]
N
01/16/09 Baranzini SE
November 14, 2008
Hum Mol Genet
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
Multiple sclerosis 978 European ancestry cases, 883 European ancestry controls NA 8p23.2 CSMD1 CSMD1 rs1529316-? intron 0.47 2 x 10-6 1.36 [NR] Illumina
[551,642]
N




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