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

Publications

2023 GWAS Central: an expanding resource for finding and visualising genotype and phenotype data from genome-wide association studies

2014 GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies

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

Contact

Tim Beck   0000-0002-0292-7972

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 HGVM15354 is used to demonstrate the providers available for GWAS Central Marker. Some providers may use a different example, which is displayed in the table below. A guide for curating additional providers can be found here.