Description of column headings for downloadable files
Association data in the GWAS Catalog is mapped to the genome using the latest version of Ensembl. For details on genome assembly and dbSNP build, refer to the GWAS Catalog homepage.
File headers for catalog v1.0.1
File headers for catalog v1.0.2
File headers for catalog v1.0.2.1
File headers for ancestry download
File headers for unpublished studies v1.0.3
File headers for unpublished studies v1.0.3.1
File headers for unpublished ancestries
*Available in associations download files
+Available in studies download files
File headers for catalog v1.0
DATE ADDED TO CATALOG⁎ ⁺: Date a study is published in the catalog
PUBMEDID⁎ ⁺: PubMed identification number
FIRST AUTHOR⁎ ⁺: Last name and initials of first author
DATE⁎ ⁺: Publication date (online (epub) date if available)
JOURNAL⁎ ⁺: Abbreviated journal name
LINK⁎ ⁺: PubMed URL
STUDY⁎ ⁺: Title of paper
DISEASE/TRAIT⁎ ⁺: Disease or trait examined in study
INITIAL SAMPLE DESCRIPTION⁎ ⁺: Sample size and ancestry description for stage 1 of GWAS (summing across multiple Stage 1 populations, if applicable)
REPLICATION SAMPLE DESCRIPTION⁎ ⁺: Sample size and ancestry description for subsequent replication(s) (summing across multiple populations, if applicable)
REGION⁎: Cytogenetic region associated with rs number
CHR_ID⁎: Chromosome number associated with rs number
CHR_POS⁎: Chromosomal position associated with rs number
REPORTED GENE(S)⁎: Gene(s) reported by author
MAPPED GENE(S)⁎: Gene(s) mapped to the strongest SNP. If the SNP is located within a gene, that gene is listed. If the SNP is located within multiple genes, these genes are listed separated by commas. If the SNP is intergenic, the upstream and downstream genes are listed, separated by a hyphen.
UPSTREAM_GENE_ID⁎: Entrez Gene ID for nearest upstream gene to rs number, if not within gene
DOWNSTREAM_GENE_ID⁎: Entrez Gene ID for nearest downstream gene to rs number, if not within gene
SNP_GENE_IDS⁎: Entrez Gene ID, if rs number within gene; multiple genes denotes overlapping transcripts
UPSTREAM_GENE_DISTANCE⁎: distance in bp for nearest upstream gene to rs number, if not within gene
DOWNSTREAM_GENE_DISTANCE⁎: distance in bp for nearest downstream gene to rs number, if not within gene
STRONGEST SNP-RISK ALLELE⁎: SNP(s) most strongly associated with trait + risk allele (? for unknown risk allele). May also refer to a haplotype.
SNPS⁎: Strongest SNP; if a haplotype it may include more than one rs number (multiple SNPs comprising the haplotype)
MERGED⁎: denotes whether the SNP has been merged into a subsequent rs record (0 = no; 1 = yes;)
SNP_ID_CURRENT⁎: current rs number (will differ from strongest SNP when merged = 1)
CONTEXT⁎: provides information on a variant’s predicted most severe functional effect from Ensembl
INTERGENIC⁎: denotes whether SNP is in intergenic region (0 = no; 1 = yes)
RISK ALLELE FREQUENCY⁎: Reported risk/effect allele frequency associated with strongest SNP in controls (if not available among all controls, among the control group with the largest sample size). If the associated locus is a haplotype the haplotype frequency will be extracted.
P-VALUE⁎: Reported p-value for strongest SNP risk allele (linked to dbGaP Association Browser). Note that p-values are rounded to 1 significant digit (for example, a published p-value of 4.8 x 10-7 is rounded to 5 x 10-7).
PVALUE_MLOG⁎: -log(p-value)
P-VALUE (TEXT)⁎: Information describing context of p-value (e.g. females, smokers).
OR or BETA⁎: Reported odds ratio or beta-coefficient associated with strongest SNP risk allele. Note that prior to 2021, any OR <1 was inverted, along with the reported allele, so that all ORs included in the Catalog were >1. This is no longer done, meaning that associations added after 2021 may have OR <1. Appropriate unit and increase/decrease are included for beta coefficients.
95% CI (TEXT)⁎: Reported 95% confidence interval associated with strongest SNP risk allele, along with unit in the case of beta-coefficients. If 95% CIs are not published, we estimate these using the standard error, where available.
PLATFORM (SNPS PASSING QC)⁎: Genotyping platform manufacturer used in Stage 1; also includes notation of pooled DNA study design or imputation of SNPs, where applicable
CNV⁎: Study of copy number variation (yes/no)
ASSOCIATION COUNT⁺: Number of associations identified for this study
Last updated: 12 January 2016
File headers for catalog v1.0.1
As for version 1.0 plus
MAPPED_TRAIT⁎ ⁺: Mapped Experimental Factor Ontology trait for this study
MAPPED_TRAIT_URI⁎ ⁺: URI of the EFO trait
STUDY ACCESSION⁎ ⁺: Accession ID allocated to a GWAS Catalog study
Dismissed from 1 May 2018
Last updated: 24 April 2018
File headers for catalog v1.0.2
As for version 1.0.1 plus
GENOTYPING_TECHNOLOGY⁎ ⁺: Genotyping technology/ies used in this study, with additional array information (ex. Immunochip or Exome array) in brackets.
Added: 24 April 2018
File headers for catalog v1.0.2.1
As for version 1.0.2 plus
COHORT+: Discovery stage cohorts used in this study. The full list of cohort abbreviations and definitions can be found here.
FULL SUMMARY STATISTICS+: Availability of full genome-wide summary statistics files for download
SUMMARY STATS LOCATION+: The location of the summary statistics file
GxE+: Study design is genome-wide genotype-by-environment interaction
Added: October 2023
File headers for ancestry download
STUDY ACCESSION: Accession ID allocated to a GWAS Catalog study
PUBMEDID: PubMed identification number
FIRST AUTHOR: Last name and initials of first author
DATE: Publication date (online (epub) date if available)
INITIAL SAMPLE DESCRIPTION: Sample size and ancestry description for GWAS stage (summing across multiple populations, if applicable)
REPLICATION SAMPLE DESCRIPTION: Sample size and ancestry description for subsequent replication(s) (summing across multiple populations, if applicable)
STAGE: Stage of the GWAS to which the sample description applies, either initial or replication
NUMBER OF INDIVDUALS: Number of individuals in this sample
BROAD ANCESTRAL CATEGORY: Ancestry category group label, assigned to reduce complexity within the data sets and place samples in context. For more information please refer to documentation.
COUNTRY OF ORIGIN: Country of origin of the individuals in the sample
COUNTRY OF RECRUITMENT: Country of recruitment of the individuals in the sample
ADDITONAL ANCESTRY DESCRIPTION: Any additional ancestry descriptors relevant to the sample description
Added: 16 September 2016
File headers for unpublished studies v1.0.3
DATE ADDED TO CATALOG Not used
PUBMED ID Not used
FIRST AUTHOR Last name and initials of first author
DATE Not used
JOURNAL Not used
LINK URL of the manuscript the GWAS is included in
STUDY Title of manuscript the GWAS is included in
DISEASE/TRAIT Disease or trait examined in the GWAS
INITIAL SAMPLE SIZE Not used
REPLICATION SAMPLE SIZE Not used
PLATFORM [SNPS PASSING QC] Genotyping platform manufacturer and number of SNPs tested in the analysis; also includes imputation of SNPs, where applicable
ASSOCIATION COUNT Not used
MAPPED_TRAIT Not used
MAPPED_TRAIT_URI Not used
STUDY ACCESSION GWAS Catalog Accession ID
GENOTYPING TECHNOLOGY Genotyping technology/ies used in this study, with additional array information (eg. Immunochip or Exome array) in brackets.
BACKGROUND TRAIT Any background trait(s) shared by all individuals in the GWAS
MAPPED BACKGROUND TRAIT Not used
MAPPED BACKGROUND TRAIT URI Not used
SUMMARY STATS LOCATION The location of the summary statistics file
SUBMISSION DATE The date the GWAS was submitted to the Catalog
STATISTICAL MODEL Details of the statistical model used to determine association significance
Added: 15 May 2020
File headers for unpublished studies v1.0.3.1
As for version 1.0.3 plus
COHORT+: Discovery stage cohorts used in this study. The full list of cohort abbreviations and definitions can be found here.
FULL SUMMARY STATISTICS+: Availability of full genome-wide summary statistics files for download
Added October 2023
File headers for unpublished ancestries
STUDY ACCESSION GWAS Catalog Accession ID
PUBMED ID not used
FIRST AUTHOR Last name and initials of first author
DATE not used
INITIAL SAMPLE DESCRIPTION not used
REPLICATION SAMPLE DESCRIPTION not used
STAGE not used/filled with initial for all
NUMBER OF INDIVIDUALS Number of individuals in this sample
BROAD ANCESTRAL CATEGORY Broad ancestral category to which the individuals in the sample belong
COUNTRY OF ORIGIN not used
COUNTRY OF RECRUITMENT Country of recruitment of the individuals in the sample
ADDITIONAL ANCESTRY DESCRIPTION Any additional ancestry descriptors relevant to the sample description
ANCESTRY DESCRIPTOR The most detailed ancestry descriptor(s) for the sample.
FOUNDER/GENETICALLY ISOLATED POPULATION Description of a founder or genetically isolated population
NUMBER OF CASES The number of cases in this broad ancestry group
NUMBER OF CONTROLS The number of controls in this broad ancestry group
SAMPLE DESCRIPTION Additional sample information required for the interpretation of result
COHORT(S) List of cohort(s) represented in the discovery sample (moved to studies download in v1.0.3.1)
COHORT-SPECIFIC REFERENCE List of cohort specific identifier(s) issued to this research study (removed in v1.0.3.1)
Added 15 May 2020, updated October 2023