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rs63750640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar


Make rs63750640(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47414405
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750640
dbSNP (classic)rs63750640
ClinGenrs63750640
ebirs63750640
HLIrs63750640
Exacrs63750640
Gnomadrs63750640
Varsomers63750640
LitVarrs63750640
Maprs63750640
PheGenIrs63750640
Biobankrs63750640
1000 genomesrs63750640
hgdprs63750640
ensemblrs63750640
geneviewrs63750640
scholarrs63750640
googlers63750640
pharmgkbrs63750640
gwascentralrs63750640
openSNPrs63750640
23andMers63750640
SNPshotrs63750640
SNPdbers63750640
MSV3drs63750640
GWAS Ctlgrs63750640
Max Magnitude6
ClinVar
Risk rs63750640(C;C) rs63750640(G;G)
Alt rs63750640(C;C) rs63750640(G;G)
Reference Rs63750640(T;T)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47641544T>C; NC_000002.11:g.47641544T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076750.2, RCV000491370.1, RCV000076751.2,