Variant (rsID / SNP)
rs5082
rs5082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOA2. Location: chromosome 1, position 161,193,683. Clinical significance in the table: Pathogenic.
Reference-table entries
APOA2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:161193683
- Cytoband
- 1q23.3
- HGVS
- NG_012043.1:g.4736C>T
Associated conditions / phenotypes
Hypercholesterolemia, familial, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.