rs63750971
A SNP in the MLH1 gene on chromosome 3. Its most notable genotype is -;CA: Lynch syndrome, pathogenic mutation
- Gene
- MLH1
- Location
- Chr 337,050,536 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;CAMost notableBadLynch syndrome, pathogenic mutation
- AC;ACGoodcommon in clinvar
- CA;CAGoodcommon in clinvar
- I;IGoodNo summary available.
On SNPedia: (-;CA), (AC;AC), (CA;CA), (I;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MLH1 SNPs
- rs11541859G;TLynch syndrome, pathogenic mutationVery important
- rs35001569A;TLynch syndrome, pathogenic mutationVery important
- rs41542214C;TLynch syndromeVery important
- rs63749795C;TLynch syndrome, pathogenic mutationVery important
- rs63749804-;CLynch syndrome, pathogenic mutationVery important
- rs63749813-;GALynch syndrome, pathogenic mutationVery important
- rs63749816-;CLynch syndrome, pathogenic mutationVery important
- rs63749818A;CLynch syndrome, pathogenic mutationVery important
Notes
From SNPedia
Notes
aka c.2152_2153delCA and also c.1858_1859dupCA; both are considered pathogenic in ClinVar for Lynch syndrome
-;CA
Note: if raw data is DI, exact mutation may be ambiguous.
Source and license
Adapted from rs63750971 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.