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: www.CafeVariome.org
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 |