Variant (rsID / SNP)
rs693
rs693 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APOB. Location: chromosome 2, position 21,232,195. Clinical significance in the table: Benign.
Reference-table entries
APOBBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:21232195
- Cytoband
- 2p24.1
- HGVS
- NM_000384.3(APOB):c.7545C>T (p.Thr2515=)
- Allele change
- Synonymous_T2515T
Associated conditions / phenotypes
Familial hypobetalipoproteinemia 1|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|Warfarin response|Hypercholesterolemia, autosomal dominant, type B|Familial hypobetalipoproteinemia 1|Hypercholesterolemia, autosomal dominant, type B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.