rs1805319
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is G;G: common in clinvar
- Gene
- PMS2
- Location
- Chr 75,997,349 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- AncestryDNA
- Minor allele frequency
- 16%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1805319 on the minus strand: (C;C). 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.
- AverageG;G 2%
- European ancestry (Utah)G;G 5%
- Han Chinese (Beijing)G;G 2%
- Japanese (Tokyo)G;G 0%
- Yoruba (Nigeria)G;G 0%
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
Source and license
Adapted from rs1805319 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.