Datasets

GWAS catalog

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Dataset specifications

Tags
Genome Variation
Provenance Original
Registration Added by RDF portal
Data provider
  • European Bioinformatics Institute
Creator
  • European Bioinformatics Institute
Issued
Licenses
  • Summary statistics are available under CC0 terms unless otherwise indicated
  • Other GWAS Catalog data can be used under the standard Terms of Use for EBI services which can be found at http://www.ebi.ac.uk/about/terms-of-use.
  • The code is available under the Apache version 2.0 license.
Download https://rdfportal.org/download/gwas-catalog
SPARQL Endpoint https://rdfportal.org/ebi/sparql

Dataset statistics

Triples
47082578
Subjects
2419147
Properties
55
Objects
6144136
Classes
11025

SPARQL example queries

Example 1

Run on Endpoint
# Endpoint: https://togovar.org/sparql
# Description: GWAS Catalog association and study record for dbsnp rs671 variant
# Parameter: snps: (example: rs671)

PREFIX gwas: <http://rdf.ebi.ac.uk/terms/gwas/>
PREFIX terms: <http://med2rdf.org/gwascatalog/terms/>
PREFIX dct: <http://purl.org/dc/terms/>

SELECT ?strongest_snp_risk_allele ?p_value ?beta ?beta_unit ?ci_text ?mapped_trait_text ?mapped_trait_uri ?refpubmed ?study ?study_description ?initial_sample_size ?replication_sample_size ?snps
WHERE {
    VALUES ?snps { "rs671" }
    ?GWASAssociation a gwas:Association ;
        terms:strongest_snp_risk_allele ?strongest_snp_risk_allele ;
        terms:p_value ?p_value ;
        terms:beta ?beta ;
        terms:beta_unit ?beta_unit ;
        terms:ci_text ?ci_text ;
        terms:mapped_trait ?mapped_trait_text ;
        terms:mapped_trait_uri ?mapped_trait_uri ;
        dct:references ?refpubmed ;
        terms:study ?study ;
        terms:snps ?snps .
    ?study a gwas:Study ;
        dct:description ?study_description ;
        terms:initial_sample_size ?initial_sample_size ;
        terms:replication_sample_size ?replication_sample_size .
}
LIMIT 100

Schema diagram

Schema diagram for gwas-catalog
Schema diagram for gwas-catalog