rs1052471
A SNP in the POLD1 gene on chromosome 19. Its most notable genotype is C;T: High risk of colorectal cancer; endometrial cancer risk also elevated
- Gene
- POLD1
- Location
- Chr 1950,406,437 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;TMost notableBadHigh risk of colorectal cancer; endometrial cancer risk also elevated
- T;TGoodcommon/normal
On SNPedia: (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 3 HapMap populations.
- AverageC;T 0% T;T 100%
- European ancestry (Utah)C;T 0% T;T 100%
- Han Chinese (Beijing)C;T 0% T;T 100%
- Yoruba (Nigeria)C;T 0% T;T 100%
Related
Conditions, medicines and genes
Other POLD1 SNPs
- 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
- rs397514632A;GSignificantly higher risk for colorectal and endometrial cancerVery important
Notes
From SNPedia
Notes
Heterozygotes are predicted to have a significantly higher risk of colorectal cancer, based on both patient and theoretical studies.
C;T
see text and links via main rs-page
Source and license
Adapted from rs1052471 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.