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rs63750558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750558(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429785
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750558
dbSNP (classic)rs63750558
ClinGenrs63750558
ebirs63750558
HLIrs63750558
Exacrs63750558
Gnomadrs63750558
Varsomers63750558
LitVarrs63750558
Maprs63750558
PheGenIrs63750558
Biobankrs63750558
1000 genomesrs63750558
hgdprs63750558
ensemblrs63750558
geneviewrs63750558
scholarrs63750558
googlers63750558
pharmgkbrs63750558
gwascentralrs63750558
openSNPrs63750558
23andMers63750558
SNPshotrs63750558
SNPdbers63750558
MSV3drs63750558
GWAS Ctlgrs63750558
Max Magnitude6
ClinVar
Risk rs63750558(T;T)
Alt rs63750558(T;T)
Reference Rs63750558(C;C)
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.47656924C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076043.3, RCV000162405.2,