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rs63750047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
(T;T) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475066
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750047
ebirs63750047
HLIrs63750047
Exacrs63750047
Varsomers63750047
Maprs63750047
PheGenIrs63750047
hapmaprs63750047
1000 genomesrs63750047
hgdprs63750047
ensemblrs63750047
gopubmedrs63750047
geneviewrs63750047
scholarrs63750047
googlers63750047
pharmgkbrs63750047
gwascentralrs63750047
openSNPrs63750047
23andMers63750047
23andMe allrs63750047
SNP Nexus

SNPshotrs63750047
SNPdbers63750047
MSV3drs63750047
GWAS Ctlgrs63750047
Max Magnitude6

rs63750047 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 7713503]

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 609309.0006

OMIM609309
Desc
Variant0006
Relatedalso


ClinVar
Risk rs63750047(T;T)
Alt rs63750047(T;T)
Reference rs63750047(C;C)
Significance Pathogenic
Disease Muir-Torré syndrome Lynch syndrome
Variation info
Gene MSH2
CLNDBN Muir-Torré syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47702205C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001828.2, RCV000076290.2,