Annotation Detail
Information
- Associated Genes
- CYP27B1
- Associated Variants
-
NC_000012.12:g.57768302G>T
NC_000012.12:g.57768302G>T - Associated Disease
- Vitamin D-dependent rickets, type 1A
- Source Database
- ClinVar
- Description
- NC_000012.12:g.57768302G>T AND Vitamin D-dependent rickets, type 1A
- ClinVar Allele ID
- 2401909
- Clinical Significance Description
- Likely risk allele
- Clinical Significance Last Update
- 2020-02-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003318421
- ClinVar Disease
- Vitamin D-dependent rickets, type 1A
- Observed Origin Sample
- biparental
Drugs