Annotation Detail
Information
- Associated Genes
- CYP2R1
- Associated Variants
-
CYP2R1 p.Ser59= (p.S59=)
(
ENST00000334636.10 )
CYP2R1 p.Ser59= (p.S59=) ( ENST00000334636.10 ) - Associated Disease
- Pulmonary disease, chronic obstructive, susceptibility to
- Source Database
- ClinVar
- Description
- NM_024514.5(CYP2R1):c.177C>T (p.Ser59=) AND Pulmonary disease, chronic obstructive, susceptibility to
- ClinVar Allele ID
- 1156655
- ClinVar RefSeq Alternation Syntax
- NM_024514.5:c.177C>T
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2022-07-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002508805
- ClinVar Disease
- Pulmonary disease, chronic obstructive, susceptibility to
- Observed Origin Sample
- germline
Drugs