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rs63750347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750347(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47412522
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750347
ebirs63750347
HLIrs63750347
Exacrs63750347
Varsomers63750347
Maprs63750347
PheGenIrs63750347
hapmaprs63750347
1000 genomesrs63750347
hgdprs63750347
ensemblrs63750347
gopubmedrs63750347
geneviewrs63750347
scholarrs63750347
googlers63750347
pharmgkbrs63750347
gwascentralrs63750347
openSNPrs63750347
23andMers63750347
23andMe allrs63750347
SNP Nexus

SNPshotrs63750347
SNPdbers63750347
MSV3drs63750347
GWAS Ctlgrs63750347
Max Magnitude6

rs63750347, also known as c.754C>T, p.Gln252Ter and Q252X, is a very rare mutation in the MSH2 gene on chromosome 2.

Acting in an autosomal dominant manner, the rs63750347(T) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers.

Although on their v3 chip under it's real (public) name, on their v4 chip, rs63750347 has been renamed by 23andMe to a private name, i5900960.

ClinVar
Risk rs63750347(G,T;G,T)
Alt rs63750347(G,T;G,T)
Reference rs63750347(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47639661C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076700.2,