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rs397514632

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Significantly higher risk for colorectal and endometrial cancer
(G;G) 0 common/normal


Make rs397514632(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome19
Position50406456
GenePOLD1
is asnp
is mentioned by
dbSNPrs397514632
dbSNP (classic)rs397514632
ClinGenrs397514632
ebirs397514632
HLIrs397514632
Exacrs397514632
Gnomadrs397514632
Varsomers397514632
LitVarrs397514632
Maprs397514632
PheGenIrs397514632
Biobankrs397514632
1000 genomesrs397514632
hgdprs397514632
ensemblrs397514632
geneviewrs397514632
scholarrs397514632
googlers397514632
pharmgkbrs397514632
gwascentralrs397514632
openSNPrs397514632
23andMers397514632
23andMe allrs397514632
SNPshotrs397514632
SNPdbers397514632
MSV3drs397514632
GWAS Ctlgrs397514632
Max Magnitude7

rs397514632, also known as c.1433G>A, p.Ser478Asn or S478N, represents a very rare variant in the POLD1 gene on chromosome 19.

The rs397514632(A) allele is considered to be a high penetrance, dominant mutation significantly increasing one's risk for colorectal cancer, manifesting primarily as tumors occuring predominantly or exclusively in the large bowel, as well as endometrial cancer. [PMID 23263490OA-icon.png]