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rs63750934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750934(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47414368
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750934
dbSNP (classic)rs63750934
ClinGenrs63750934
ebirs63750934
HLIrs63750934
Exacrs63750934
Gnomadrs63750934
Varsomers63750934
LitVarrs63750934
Maprs63750934
PheGenIrs63750934
Biobankrs63750934
1000 genomesrs63750934
hgdprs63750934
ensemblrs63750934
geneviewrs63750934
scholarrs63750934
googlers63750934
pharmgkbrs63750934
gwascentralrs63750934
openSNPrs63750934
23andMers63750934
SNPshotrs63750934
SNPdbers63750934
MSV3drs63750934
GWAS Ctlgrs63750934
Max Magnitude6
ClinVar
Risk rs63750934(T;T)
Alt rs63750934(T;T)
Reference Rs63750934(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47641507C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076744.2, RCV000478579.1, RCV000490887.1,