rs193922343
A SNP in the MSH6 gene on chromosome 2. Its most notable genotype is -;AAGAA: Lynch syndrome
- Gene
- MSH6
- Location
- Chr 247,806,256 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;AAGAAMost notableBadLynch syndrome
- -;AGAABadLynch syndrome, pathogenic mutation
- AAAG;AAAGGoodcommon in clinvar
- AGAA;AGAAGoodcommon in clinvar
On SNPedia: (-;AAGAA), (-;AGAA), (AAAG;AAAG), (AGAA;AGAA). 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.3699_3702delAGAA (p.Lys1233Asnfs); rs267608115 is functionally equivalent to rs193922343 and has been merged into it in dbSNP, but for frequency lookup in ExAc or gnomAD, use rs267608115. 23andMe name: i5037895
Source and license
Adapted from rs193922343 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.