ID: | NBDC02410 |
Database name: | DPV |
Alternative name: | Database of Pathogenic Variants |
URL: | http://dpv.cmg.med.keio.ac.jp/dpv-pub/top |
Database maintenance site: | Center for Medical Genetics, Keio University School of Medicine (Link to J-Global) |
Country/Region: | Japan |
Database description: | DPV provides information on germline pathogenic mutations in the Japanese population. The data of mutations were curated from published papers regarding Japanese patients with rare diseases and research activities in Japan. All registered variants can be downloaded as an aggregated single VCF file to use in laboratories. |
Organism(s) covered: | Homo sapiens (9606) |
Tag - Target: | Genome/Gene, Genetic variation, Health/Disease |
Tag - Information type: | Phenotype, Sequence, Bibliography/Documents |
Reference(s) - PubMed ID/DOI: | - |
Language(s): | English |
Operational status: | Active |
Link(s) to Downloadable data: | http://dpv.cmg.med.keio.ac.jp/dpv-pub/variants |
Link(s) to Metadata of downloadable data: | - |
Link(s) to Terms of use: | - |
Link(s) to "How to use": | - |
Contact information of database: | - |
Link(s) to API / SPARQL endpoint | - |