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rs63750970

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750970(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47408478
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750970
dbSNP (classic)rs63750970
ClinGenrs63750970
ebirs63750970
HLIrs63750970
Exacrs63750970
Gnomadrs63750970
Varsomers63750970
LitVarrs63750970
Maprs63750970
PheGenIrs63750970
Biobankrs63750970
1000 genomesrs63750970
hgdprs63750970
ensemblrs63750970
geneviewrs63750970
scholarrs63750970
googlers63750970
pharmgkbrs63750970
gwascentralrs63750970
openSNPrs63750970
23andMers63750970
SNPshotrs63750970
SNPdbers63750970
MSV3drs63750970
GWAS Ctlgrs63750970
GMAF0.0
Max Magnitude6
ClinVar
Risk rs63750970(T;T)
Alt rs63750970(T;T)
Reference Rs63750970(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided Lynch syndrome I Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided Lynch syndrome I Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47635617C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076556.2, RCV000160586.2, RCV000409729.1, RCV000491888.1,