Cafe Variome Central

A genotype-phenotype installation created from publicly available datasets.

Cafe Variome Central is a fully functioning installation of the Cafe Variome project, further information about the project can be found at:

Cafe Variome Central was designed to function as a clearinghouse and exchange portal for gene variant data produced by diagnostics laboratories and all available variants from public repositories, offering users a portal through which to announce, discover and acquire a comprehensive listing of observed neutral and disease-causing gene variants in patients and unaffected individuals.

Searching for variant data does not require you to sign-up for an account with Cafe Variome Central but if you wish to deposit data please sign up for an account.

Currently available sources and variants

Name Description Variant Count
diagnostic Diagnostic Variants 242
1000genomes 1000 Genomes Project 86306
dbsnp dbSNP 1093904
dmudb Diagnostic Mutation Database 19
forge FORGE Canada Consortium 74
hgmd Human Gene Mutation Database 57930
lsdb Locus-specific Databases 89649
uniprot Uniprot 67197
phencode PhenCode 91114
findbase The Frequency of Inherited Disorders Database 1952
findis Finnish Disease Database 1300