Variant (rsID / SNP)

rs3218775

rs3218775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLD1. Location: chromosome 19, position 50,918,229. Clinical significance in the table: Benign.

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Reference-table entries

POLD1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:50918229
Cytoband: 19q13.33
HGVS: NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
Allele change: Missense_R849H

Associated conditions / phenotypes

Colorectal cancer, susceptibility to, 10|Hereditary cancer-predisposing syndrome|Carcinoma of colon

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.