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 Study.

gene genome
Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in GWAS Central Study should match this regular expression:

Example Local Unique Identifier
HGVST1828   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from GWAS Central Study should match this regular expression:

Example CURIE
Metaregistry GWAS Central Study

The metaregistry provides mappings between the Bioregistry and other registries. There are 4 mappings to external registries for this resource with 2 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext GWASCENTRAL.STUDY logo miriam
N2T Name-to-Thing logo n2t
Prefix Commons Prefix Commons logo prefixcommons hgvbase

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 HGVST1828 is used to demonstrate the providers available for GWAS Central Study. A guide for curating additional providers can be found here.

Name Metaprefix URI
GWAS Central Study
Bioregistry bioregistry miriam
Name-to-Thing n2t
Extra Providers

Additional providers curated in the Bioregistry are listed here. These are typically inherited from or Prefix Commons, and need extra curation.

Code Name URL
bio2rdf Bio2RDF