Variant (rsID / SNP)
rs3218772
rs3218772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLD1. Location: chromosome 19, position 50,902,196. Clinical significance in the table: Benign.
Reference-table entries
POLD1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:50902196
- Cytoband
- 19q13.33
- HGVS
- NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
- Allele change
- Missense_R30W
Associated conditions / phenotypes
Colorectal cancer, susceptibility to, 10|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.