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 Phenotype.

Prefix

gwascentral.phenotype

Links

Homepage

Contact

Missing Contact

Pattern for Local Unique Identifiers

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

Example Local Unique Identifier

HGVPM623   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from GWAS Central Phenotype should match this regular expression:
^gwascentral\.phenotype:HGVPM\d+$

Example CURIE

gwascentral.phenotype:HGVPM623

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.

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier HGVPM623 is used to demonstrate the providers available for GWAS Central Phenotype. A guide for curating additional providers can be found here.