Variant (rsID / SNP)
rs1926447
rs1926447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPB2. Location: chromosome 13, position 46,629,944. The table records no clinical significance for this variant.
Reference-table entries
CPB2Not classified
- Variant type
- missense_variant
- Chromosome / position
- 13:46629944
- HGVS
- NM_001872.5,c.1040T>C,p.Ile347Thr
- Allele change
- Silent
Associated conditions / phenotypes
Thrombosis|Thrombophilia|Cerebrovascular Disease|Bacterial Meningitis|Meningitis|Pneumococcal Meningitis|Thrombophilia Due to Thrombin Defect|Coronary Heart Disease 1|Lipid Metabolism Disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.