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

rs63751615

From SNPedia

Orientationplus
Stabilizedplus
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
Position37012098
GeneMLH1
is asnp
is mentioned by
dbSNPrs63751615
ebirs63751615
HLIrs63751615
Exacrs63751615
Varsomers63751615
Maprs63751615
PheGenIrs63751615
hapmaprs63751615
1000 genomesrs63751615
hgdprs63751615
ensemblrs63751615
gopubmedrs63751615
geneviewrs63751615
scholarrs63751615
googlers63751615
pharmgkbrs63751615
gwascentralrs63751615
openSNPrs63751615
23andMers63751615
23andMe allrs63751615
SNP Nexus

SNPshotrs63751615
SNPdbers63751615
MSV3drs63751615
GWAS Ctlgrs63751615
Merged fromRs121912958
Max Magnitude6

rs63751615 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 9927033]

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 120436.0010

ClinVar
Risk rs63751615(T;T)
Alt rs63751615(T;T)
Reference rs63751615(C;C)
Significance Pathogenic
Disease Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MLH1
CLNDBN Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000003.11:g.37053589C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018616.28, RCV000018617.28, RCV000075801.2, RCV000115485.4, RCV000202205.1,