rs2228006
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is T;T: common in clinvar
- Gene
- PMS2
- Location
- Chr 75,987,144 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 12%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs2228006 on the minus strand: (A;A), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageT;T 1% C;C 80%
- European ancestry (Utah)T;T <1% C;C 73%
- Han Chinese (Beijing)T;T 2% C;C 87%
- Japanese (Tokyo)T;T 0% C;C 87%
- Yoruba (Nigeria)T;T 0% C;C 90%
- African ancestry (Southwest US)T;T 0% C;C 81%
- Chinese (Denver)T;T 0% C;C 89%
- Gujarati IndianT;T 2% C;C 79%
- Luhya (Kenya)T;T <1% C;C 84%
- Mexican ancestry (Los Angeles)T;T 9% C;C 57%
- Maasai (Kenya)T;T <1% C;C 81%
- TuscanT;T 0% C;C 76%
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 rs2228006 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.