rs3219489
A SNP in the MUTYH gene on chromosome 1. Its most notable genotype is C;C: common in clinvar
- Gene
- MUTYH
- Location
- Chr 145,331,833 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 32%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs3219489 on the minus strand: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageC;C 34%
- European ancestry (Utah)C;C 41%
- Han Chinese (Beijing)C;C 24%
- Japanese (Tokyo)C;C 24%
- Yoruba (Nigeria)C;C 47%
Related
Other MUTYH SNPs
- rs34612342C;Cincreased risk for several cancersVery important
- rs36053993T;Tlikely to be at somewhat increased risk for colorectal cancersVery important
- rs77542170C;Cautosomal recessive familial adenomatous polyposis-2 (FAP2)Very important
- rs200165598C;TPossible polyp associated variant, but of uncertain significanceVery important
- rs1060501342-;CCincreased risk for several cancersVery important
- rs121908380G;TCarrier of a MUTYH-related familial adenomatous polyposis mutationImportant
- rs121908381A;CCarrier of a MUTYH-related familial adenomatous polyposis mutationImportant
- rs143353451C;TCarrier of a MUTYH-related familial adenomatous polyposis mutationImportant
Notes
From SNPedia
Show notes, about 150 words
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Genotyping panel for assessing response to cancer chemotherapy. Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study. Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk. Association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and age-related macular degeneration.
Source and license
Adapted from rs3219489 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.