rs63750198
A SNP in the MLH1 gene on chromosome 3. Its most notable genotype is A;A: possible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
- Gene
- MLH1
- Location
- Chr 337,014,509 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadpossible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
- A;CBadpossible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
- C;CGoodcommon in clinvar
On SNPedia: (A;A), (A;C), (C;C). 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
rs63750198 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC). The connection between this SNP and Lynch syndrome seems a bit tenous, though, as there are not a lot of publications to confirm it. This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. See also OMIM 120436.0001
A;A
possible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
A;C
possible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
Source and license
Adapted from rs63750198 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.