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
Metaregistry

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

Registry Name Metaprefix External Prefix
Identifiers.org miriam gwascentral.marker
Name-to-Thing n2t gwascentral.marker
Prefix Commons prefixcommons GWASCENTRAL.MARKER
Providers

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 URI
GWAS Central Marker gwascentral.marker https://www.gwascentral.org/marker/HGVM15354
Bioregistry bioregistry https://bioregistry.io/gwascentral.marker:HGVM15354
Identifiers.org miriam https://identifiers.org/gwascentral.marker:HGVM15354
Name-to-Thing n2t https://n2t.net/gwascentral.marker:HGVM15354