Have questions? Visit https://www.reddit.com/r/SNPedia

rs63751109

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(T;T) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
ReferenceGRCh38 38.1/141
Chromosome3
Position36996633
GeneMLH1
is asnp
is mentioned by
dbSNPrs63751109
ebirs63751109
HLIrs63751109
Exacrs63751109
Varsomers63751109
Maprs63751109
PheGenIrs63751109
hapmaprs63751109
1000 genomesrs63751109
hgdprs63751109
ensemblrs63751109
gopubmedrs63751109
geneviewrs63751109
scholarrs63751109
googlers63751109
pharmgkbrs63751109
gwascentralrs63751109
openSNPrs63751109
23andMers63751109
23andMe allrs63751109
SNP Nexus

SNPshotrs63751109
SNPdbers63751109
MSV3drs63751109
GWAS Ctlgrs63751109
Merged fromRs121912957
Max Magnitude6

rs63751109 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 8145827]

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.[PMID 23788249OA-icon.png]

See also OMIM 120436.0002

ClinVar
Risk rs63751109(T;T)
Alt rs63751109(T;T)
Reference rs63751109(C;C)
Significance Pathogenic
Disease Lynch syndrome II Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome II Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37038124C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018608.30, RCV000075169.2,