rs63750540
A SNP in the MLH1 gene on chromosome 3. Its most notable genotype is A;T: Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
- Gene
- MLH1
- Location
- Chr 337,025,979 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;TMost notableBadLynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
- T;TBadLynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
On SNPedia: (A;A), (A;T), (T;T). 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
rs63750540 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC). 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.
T;T
Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2). However, be aware of the possibility of an artefact due to orientation ambiguous flips.
Source and license
Adapted from rs63750540 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.