rs397514632
A SNP in the POLD1 gene on chromosome 19. Its most notable genotype is A;G: Significantly higher risk for colorectal and endometrial cancer
- Gene
- POLD1
- Location
- Chr 1950,406,456 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadSignificantly higher risk for colorectal and endometrial cancer
- G;GGoodcommon/normal
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other POLD1 SNPs
- rs1052471C;THigh risk of colorectal cancer; endometrial cancer risk also elevatedVery important
- rs143340270G;THigh risk of colorectal cancer; endometrial cancer risk also elevatedVery important
- rs146530638A;GHigh risk of colorectal cancer; endometrial cancer risk also elevatedVery important
- rs199700312A;GHigh risk of colorectal cancer; endometrial cancer risk also elevatedVery important
- rs201010746C;THigh risk of colorectal cancer; endometrial cancer risk also elevatedVery important
- rs201038430A;GHigh risk of colorectal cancer; endometrial cancer risk also elevatedVery important
- rs201212113A;GHigh risk of colorectal cancer; endometrial cancer risk also elevatedVery important
- rs201503929A;GHigh risk of colorectal cancer; endometrial cancer risk also elevatedVery important
Notes
From SNPedia
Notes
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.
A;G
see text and links via main rs-page
Source and license
Adapted from rs397514632 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.