Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
NC_000001.11:g.55030366T>C
NC_000001.11:g.55030366T>C - Associated Disease
- familial hypercholesterolemia
- Source Database
- ClinVar
- Description
- NC_000001.11:g.55030366T>C AND Familial hypercholesterolemia
- ClinVar Allele ID
- 1336199
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2022-03-03
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001848595
- ClinVar Disease
- Familial hypercholesterolemia
- Observed Origin Sample
- somatic
Drugs