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rs63750508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750508(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475126
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750508
dbSNP (classic)rs63750508
ClinGenrs63750508
ebirs63750508
HLIrs63750508
Exacrs63750508
Gnomadrs63750508
Varsomers63750508
LitVarrs63750508
Maprs63750508
PheGenIrs63750508
Biobankrs63750508
1000 genomesrs63750508
hgdprs63750508
ensemblrs63750508
geneviewrs63750508
scholarrs63750508
googlers63750508
pharmgkbrs63750508
gwascentralrs63750508
openSNPrs63750508
23andMers63750508
SNPshotrs63750508
SNPdbers63750508
MSV3drs63750508
GWAS Ctlgrs63750508
Max Magnitude6
ClinVar
Risk rs63750508(G;G) rs63750508(T;T)
Alt rs63750508(G;G) rs63750508(T;T)
Reference Rs63750508(C;C)
Significance Pathogenic
Disease Lynch syndrome not specified not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome not specified not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47702265C>G; NC_000002.11:g.47702265C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000465743.1, RCV000483159.1, RCV000076305.2, RCV000414448.1, RCV000491286.1,