GWAS Central (previously the Human Genome Variation database of Genotype-to-Phenotype information) is a database of summary level findings from genetic association studies, both large and small. It gathers datasets from public domain projects, and accepts direct data submission. It is based upon Marker information encompassing SNP and variant information from public databases, to which allele and genotype frequency data, and genetic association findings are additionally added. A Study (most generic level) contains one or more Experiments, one or more Sample Panels of test subjects, and one or more Phenotypes. This collection references a GWAS Central Marker.

Missing Contact
Namespace in Pattern
Example Identifier
HGVM15354   Resolve

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for gwascentral.marker.

Registry Name Metaprefix Metaidentifier miriam gwascentral.marker
Name-to-Thing n2t gwascentral.marker
Prefix Commons prefixcommons GWASCENTRAL.MARKER

Providers are various services that resolve CURIEs to URLs. The example CURIE gwascentral.marker:HGVM15354 is used to demonstrate the provides available for gwascentral.marker. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.

Name Metaprefix URL
GWAS Central Marker gwascentral.marker
Bioregistry bioregistry miriam
Name-to-Thing n2t