rs36053993
A SNP in the MUTYH gene on chromosome 1. Its most notable genotype is T;T: likely to be at somewhat increased risk for colorectal cancers
- Gene
- MUTYH
- Location
- Chr 145,331,556 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadlikely to be at somewhat increased risk for colorectal cancers
- C;TBadcarrier of a risk allele associated with colorectal polyps and possibly cancers
- C;CGoodcommon in clinvar
SNPedia records rs36053993 on the minus strand: (A;A), (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 MUTYH SNPs
- rs34612342C;Cincreased risk for several 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
- rs376561094A;GCarrier of a MUTYH-related familial adenomatous polyposis mutationImportant
Genosets
Genosets combine several genotypes. Twofold checks them in your report.
Notes
From SNPedia
Show notes, about 130 words
rs36053993, also known as Gly396Asp or G196D, is one of the two most common pathogenic mutations in the MUTYH gene. The risk allele is rs36053993(A), as oriented in accordance with dbSNP. (Mutation nomenclature according to Genbank accession number NM_001128425.1 c.1187G>A, p.Gly396Asp; numbering differences can lead to alternative designations including Gly368Asp, Gly369Asp, Gly382Asp, or Gly393Asp.) Both rs34612342 and rs36053993 are considered founder mutations that first arose in ancestors who lived between 5–8 thousand years and 6–9 thousand years B.C., respectively. People with two copies of a single mutation in the MUTYH gene are at higher risk of developing multiple adenomatous polyps and colorectal cancer.
T;T
see discussion at rs36053993
C;T
see discussion at rs36053993
Source and license
Adapted from rs36053993 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.