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
Pattern for Local Unique Identifiers

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

Example Local Unique Identifier
HGVM15354   Resolve
Pattern for CURIES

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

Example CURIE
Metaregistry GWAS Central Marker

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.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext GWASCENTRAL.MARKER logo miriam gwascentral.marker
N2T Name-to-Thing logo n2t gwascentral.marker

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 HGVM15354 is used to demonstrate the providers available for GWAS Central Marker. A guide for curating additional providers can be found here.

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