Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:database
|
| gptkbp:citation |
Landrum MJ, et al. Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067.
|
| gptkbp:focusesOn |
human genetic variation
clinical significance |
| gptkbp:format |
XML
VCF tab-delimited |
| gptkbp:freeFrom |
true
|
| gptkbp:hasType |
variants
phenotypes disease associations |
| https://www.w3.org/2000/01/rdf-schema#label |
dbClinVar
|
| gptkbp:language |
English
|
| gptkbp:maintainedBy |
gptkb:National_Center_for_Biotechnology_Information
|
| gptkbp:partOf |
gptkb:NCBI
|
| gptkbp:relatedTo |
gptkb:dbSNP
gptkb:dbVar |
| gptkbp:updated |
regularly
|
| gptkbp:usedFor |
genetic testing
variant interpretation clinical genetics research |
| gptkbp:website |
https://www.ncbi.nlm.nih.gov/clinvar/
|
| gptkbp:bfsParent |
gptkb:Entrez
|
| gptkbp:bfsLayer |
6
|