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.

Prefix

gwascentral.marker

Links

Homepage

Contact

Missing Contact

Pattern for Local Unique Identifiers

Local identifiers in GWAS Central Marker should match this regular expression:
^HGVM\d+$

Example Local Unique Identifier

HGVM15354   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from GWAS Central Marker should match this regular expression:
^gwascentral\.marker:HGVM\d+$

Example CURIE

gwascentral.marker:HGVM15354

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for this resource with 1 unique external prefixes.

Providers are various services that resolve CURIEs to URLs. The example CURIE None:HGVM15354 is used to demonstrate the provides available for this resource. Generation of OLS and BioPortal URLs requires additional programmatic logic beyond string formatting.