rs63750439
A SNP in the MSH6 gene on chromosome 2. Its most notable genotype is -;AT: Lynch syndrome, pathogenic mutation
- Gene
- MSH6
- Location
- Chr 247,799,173 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;ATMost notableBadLynch syndrome, pathogenic mutation
- AT;ATGoodcommon in clinvar
- TA;TAGoodcommon in clinvar
On SNPedia: (-;AT), (AT;AT), (TA;TA). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other MSH6 SNPs
- rs587776706T;TMismatch repair cancer syndrome (predicted)Very important
- rs1800937A;CLynch syndrome, pathogenic mutationVery important
- rs63749821-;TALikely miscall in Ancestry data; otherwise, Lynch syndrome, pathogenic mutationVery important
- rs63749843C;TLynch syndrome, pathogenic mutationVery important
- rs63749873C;GLynch syndrome, pathogenic mutationVery important
- rs63749874-;AAGALynch syndrome, pathogenic mutationVery important
- rs63749919A;GLynch syndromeVery important
- rs63749938-;ALynch Syndrome, pathogenic mutationVery important
Notes
From SNPedia
Notes
c.1190_1191delAT (p.Tyr397Cysfs) 23andMe name: i5037888. Note: in older (v4) data from 23andMe, one Promethease user has reported that their i5037888 variant was not confirmed when tested by sequencing, indicating the 23andMe result was a false positive.
-;AT
See note on main rs-page re 23andMe miscall.
Source and license
Adapted from rs63750439 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.