rs483352909
A SNP in the POLE gene on chromosome 12. Its most notable genotype is C;G: Much higher risk for colorectal cancer
- Gene
- POLE
- Location
- Chr 12132,673,664 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs483352909 on the minus strand: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other POLE SNPs
- rs116162724C;THigh risk of colorectal cancerVery important
- rs138207610A;GHigh risk of colorectal cancerVery important
- rs143690372C;THigh risk of colorectal cancerVery important
- rs200403177A;GHigh risk of colorectal cancerVery important
- rs398122515C;TPOLE associated susceptibility to colorectal cancerVery important
- rs5744760C;TLikely benign variantMinor
- rs5744857C;Ccommon in clinvarTypical
Notes
From SNPedia
Notes
rs483352909, also known as c.1270C>G, p.Leu424Val and L424V, represents a very rare variant in the POLE gene on chromosome 12. The rs483352909(G) allele, as oriented in dbSNP and in the cDNA designation, represents the most common POLE gene mutation associated with a very significantly (>50 fold) increase in risk for colorectal cancer. In a 2017 publication, carriers of a rs483352909(G) mutation had an estimated cumulative risk of developing CRC by age 70 years of 97% (CI: 85%–99%) for males and 92% (CI: 75%–99%) for females. Note: as a C/G mutation oriented on the minus strand in dbSNP, be wary of ambiguous flips when interpreting data from this SNP.
C;G
see text and links via main rs-page
Source and license
Adapted from rs483352909 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.