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rs63750951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750951(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47403372
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750951
dbSNP (classic)rs63750951
ClinGenrs63750951
ebirs63750951
HLIrs63750951
Exacrs63750951
Gnomadrs63750951
Varsomers63750951
LitVarrs63750951
Maprs63750951
PheGenIrs63750951
Biobankrs63750951
1000 genomesrs63750951
hgdprs63750951
ensemblrs63750951
geneviewrs63750951
scholarrs63750951
googlers63750951
pharmgkbrs63750951
gwascentralrs63750951
openSNPrs63750951
23andMers63750951
SNPshotrs63750951
SNPdbers63750951
MSV3drs63750951
GWAS Ctlgrs63750951
Max Magnitude6
ClinVar
Risk rs63750951(G;G) rs63750951(T;T)
Alt rs63750951(G;G) rs63750951(T;T)
Reference Rs63750951(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.47630511C>G; NC_000002.11:g.47630511C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000465589.1, RCV000076295.2, RCV000202086.1, RCV000219541.1,