rs397514632
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 7 | Significantly higher risk for colorectal and endometrial cancer |
| (G;G) | 0 | common/normal |
| Make rs397514632(A;A) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 19 |
| Position | 50406456 |
| Gene | POLD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514632 |
| dbSNP (classic) | rs397514632 |
| ClinGen | rs397514632 |
| ebi | rs397514632 |
| HLI | rs397514632 |
| Exac | rs397514632 |
| Gnomad | rs397514632 |
| Varsome | rs397514632 |
| LitVar | rs397514632 |
| Map | rs397514632 |
| PheGenI | rs397514632 |
| Biobank | rs397514632 |
| 1000 genomes | rs397514632 |
| hgdp | rs397514632 |
| ensembl | rs397514632 |
| geneview | rs397514632 |
| scholar | rs397514632 |
| rs397514632 | |
| pharmgkb | rs397514632 |
| gwascentral | rs397514632 |
| openSNP | rs397514632 |
| 23andMe | rs397514632 |
| SNPshot | rs397514632 |
| SNPdbe | rs397514632 |
| MSV3d | rs397514632 |
| GWAS Ctlg | rs397514632 |
| Max Magnitude | 7 |
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 23263490
]
