Variant (rsID / SNP)

rs201804732

rs201804732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLD1. Location: chromosome 19, position 50,910,318. Clinical significance in the table: Uncertain significance.

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Reference-table entries

POLD1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:50910318
Cytoband: 19q13.33
HGVS: NM_002691.4(POLD1):c.1573C>T (p.Arg525Trp)
Allele change: Missense_R525W

Associated conditions / phenotypes

Colorectal cancer, susceptibility to, 10|Hereditary cancer-predisposing syndrome

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.