rs17420802
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is T;T: common in clinvar
- Gene
- PMS2
- Location
- Chr 75,977,709 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs17420802 on the minus strand: (A;A). 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.
- AverageT;T 18%
- European ancestry (Utah)T;T 34%
- Han Chinese (Beijing)T;T 12%
- Japanese (Tokyo)T;T 0%
- Yoruba (Nigeria)T;T 27%
Related
Other PMS2 SNPs
- rs3209663G;TLynch syndromeVery important
- rs63750049-;TLynch syndrome, pathogenic mutationVery important
- rs63750106-;TLynch syndrome, pathogenic mutationVery important
- rs63750246-;CALynch syndrome, pathogenic mutationVery important
- rs63750250-;TLynch syndrome, pathogenic mutationVery important
- rs63750261C;TLynch syndromeVery important
- rs63750451C;TLynch syndromeVery important
- rs63750477-;TLynch syndrome, pathogenic mutationVery important
Notes
From SNPedia
Notes
[Scientific basis for production of erythrocyte diagnosticums]. Mutational analysis of the PMS2 gene in sporadic endometrial cancers with microsatellite instability. Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome. Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
Source and license
Adapted from rs17420802 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.