Schema for GWAS Catalog - NHGRI-EBI Catalog of Published Genome-Wide Association Studies
  Database: hg38    Primary Table: gwasCatalog    Row Count: 42,077
Format description: NHGRI's collection of Genome-Wide Association Studies SNPs
fieldexampleSQL type info description
bin 591smallint(5) unsigned range Indexing field to speed chromosome range queries.
chrom chr1varchar(255) values Reference sequence chromosome or scaffold
chromStart 845016int(10) unsigned range Start position in chromosome
chromEnd 845017int(10) unsigned range End position in chromosome
name rs141175086varchar(255) values ID of SNP associated with trait
pubMedID 26955885int(10) unsigned range PubMed ID of publication of the study
author Lane JMvarchar(255) values First author of publication
pubDate 2016-03-09varchar(255) values Date of publication
journal Nat Communvarchar(255) values Journal of publication
title Genome-wide association ana...varchar(1024) values Title of publication
trait Morning vs. evening chronotypevarchar(255) values Disease or trait assessed in study
initSample 8,724 European ancestry eve...longblob   Initial sample size
replSample NAlongblob   Replication sample size
region 1p36.33varchar(255) values Chromosome band / region of SNP
genes LINC01128longblob   Reported Gene(s)
riskAllele rs141175086-Cvarchar(255) values Strongest SNP-Risk Allele
riskAlFreq 0.998varchar(255) values Risk Allele Frequency
pValue 4E-8varchar(255) values p-Value
pValueDesc  varchar(255) values p-Value Description
orOrBeta 2.16varchar(255) values Odds ratio or beta
ci95 [1.34-3.49]varchar(255) values 95% Confidence Interval
platform Affymetrix [73355677] (impu...varchar(255) values Platform and [SNPs passing QC]
cnv Nenum('Y', 'N') values Y if Copy Number Variant

Sample Rows
591chr1845016845017rs14117508626955885Lane JM2016-03-09Nat CommunGenome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank.Morning vs. evening chronotype8,724 European ancestry evening chronotype individuals, 26,948 European ancestry morning chronotype individualsNA1p36.33LINC01128rs141175086-C0.9984E-82.16[1.34-3.49]Affymetrix [73355677] (imputed)N
593chr110704251070426rs393483419851299Johansson A2009-10-22Obesity (Silver Spring)Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.Body mass index1,079 South Tyrolian individuals, 790 Dutch founder individuals, 2,060 European ancestry individualsNA1p36.33NRrs3934834-G0.806E-7(females + males)0.11[NR] kg increaseIllumina [318237]N
593chr111438171143818rs1126060323382691Lauc G2013-01-31PLoS GenetLoci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cance ...IgG glycosylation2,247 European ancestry individualsNA1p36.33NRrs11260603-C0.2170582434356924E-7(IGP7)0.2608[0.16-0.36] unit increaseIllumina [~ 2500000] (imputed)N
595chr113121131312114rs1210326192919Liu JZ2015-07-20Nat GenetAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across pop ...Ulcerative colitis6,968 European ancestry cases, 20,464 European ancestry controls10,679 European ancestry cases, 26,715 European ancestry controls, 397 Iranian ancestry cases, 342 Iranian ancestry controls, 1, ...1p36.33NRrs12103-A0.18341E-9(EA)1.1046834[1.07-1.14]Affymetrix, Illumina [~ 9000000] (imputed)N
595chr113121131312114rs1210326192919Liu JZ2015-07-20Nat GenetAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across pop ...Inflammatory bowel disease12,882 European ancestry cases, 21,770 European ancestry controls25,273 European ancestry cases, 26,715 European ancestry controls, 548 Iranian ancestry cases, 342 Iranian ancestry control, 1,4 ...1p36.33NRrs12103-A0.18343E-11(EA)1.0906081[1.06-1.12]Affymetrix, Illumina [~ 9000000] (imputed)N
595chr113121131312114rs1210326192919Liu JZ2015-07-20Nat GenetAssociation analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across pop ...Crohn's disease5,956 European ancestry cases, 14,927 European ancestry controls14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 18 ...1p36.33NRrs12103-A0.18346E-7(EA)1.082054[1.05-1.11]Affymetrix, Illumina [~ 9000000] (imputed)N
595chr113121131312114rs1210323128233Jostins L2012-11-01NatureHost-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.Inflammatory bowel disease12,924 European ancestry cases, 21,442 European ancestry controls25,683 European ancestry cases, 17,015 European ancestry controls1p36.33TNFRSF18, TNFRSF4rs12103-A0.1828E-131.099[1.059-1.139]Affymetrix, Illumina [1230000] (imputed)N
595chr113516741351675rs18650765527197191Fehringer G2016-04-20Cancer ResCross-cancer genome-wide analysis of lung, ovary, breast, prostate and colorectal cancer reveals novel pleiotropic associations.Cancer (pleiotropy)5,020 European ancestry lung cancer cases, 3,718 European ancestry lung adenocarcinoma cases, 3,422 European ancestry lung squam ...NA1p36.33Intergenicrs186507655-ANR5E-10(subset analysis)Affymetrix, Illumina [9916564] (imputed)N
598chr117915911791592rs966018025673413Locke AE2015-02-12NatureGenetic studies of body mass index yield new insights for obesity biology.Body mass indexup to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male ...up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Af ...1p36.33GNB1rs9660180-A0.4998E-7(EA)0.017[0.01-0.024] kg/m2 increaseAffymetrix, Illumina [2550021]N
598chr117915911791592rs966018025673413Locke AE2015-02-12NatureGenetic studies of body mass index yield new insights for obesity biology.Body mass indexup to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male ...up to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Af ...1p36.33GNB1rs9660180-A0.4916E-70.016[0.0099-0.0229] kg/m2 increaseAffymetrix, Illumina [2550021]N

Note: all start coordinates in our database are 0-based, not 1-based. See explanation here.

GWAS Catalog (gwasCatalog) Track Description


This track displays single nucleotide polymorphisms (SNPs) identified by published Genome-Wide Association Studies (GWAS), collected in the NHGRI-EBI GWAS Catalog published jointly by the National Human Genome Research Institute (NHGRI) and the European Bioinformatics Institute (EMBL-EBI). Some abbreviations are used above.


The Catalog is a quality controlled, manually curated, literature-derived collection of all published genome-wide association studies assaying at least 100,000 SNPs and all SNP-trait associations with p-values < 1.0 x 10-5 (Hindorff et al., 2009). For more details about the Catalog curation process and data extraction procedures, please refer to the Methods page.



The GWAS Catalog data is extracted from the literature. Extracted information includes publication information, study cohort information such as cohort size, country of recruitment and subject ethnicity, and SNP-disease association information including SNP identifier (i.e. RSID), p-value, gene and risk allele. Each study is also assigned a trait that best represents the phenotype under investigation. When multiple traits are analysed in the same study either multiple entries are created, or individual SNPs are annotated with their specific traits. Traits are used both to query and visualise the data in the Catalog's web form and diagram-based query interfaces.

Data extraction and curation for the GWAS Catalog is an expert activity; each step is performed by scientists supported by a web-based tracking and data entry system which allows multiple curators to search, annotate, verify and publish the Catalog data. Papers that qualify for inclusion in the Catalog are identified through weekly PubMed searches. They then undergo two levels of curation. First all data, including association information for SNPs, traits and general information about the study, are extracted by one curator. A second curator then performs an additional round of curation to double-check the accuracy and consistency of all the information. Finally, an automated pipeline performs validation of the extracted data, see the Quality control and SNP mapping section below for more details. This information is then used for queries and in the production of the diagram.


Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9362-7. PMID: 19474294; PMC: PMC2687147