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rs63750691

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3.5 possible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(G;G) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
ReferenceGRCh38 38.1/141
Chromosome3
Position37017521
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750691
ebirs63750691
HLIrs63750691
Exacrs63750691
Varsomers63750691
Maprs63750691
PheGenIrs63750691
hapmaprs63750691
1000 genomesrs63750691
hgdprs63750691
ensemblrs63750691
gopubmedrs63750691
geneviewrs63750691
scholarrs63750691
googlers63750691
pharmgkbrs63750691
gwascentralrs63750691
openSNPrs63750691
23andMers63750691
23andMe allrs63750691
SNP Nexus

SNPshotrs63750691
SNPdbers63750691
MSV3drs63750691
GWAS Ctlgrs63750691
Merged fromRs121912964
Max Magnitude5

rs63750691 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 15571801]

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 120436.0021

ClinVar
Risk rs63750691(G;G)
Alt rs63750691(G;G)
Reference rs63750691(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.37059012C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018631.27, RCV000075875.2,