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rs63750623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750623(C;G)
Make rs63750623(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47480707
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750623
dbSNP (classic)rs63750623
ClinGenrs63750623
ebirs63750623
HLIrs63750623
Exacrs63750623
Gnomadrs63750623
Varsomers63750623
LitVarrs63750623
Maprs63750623
PheGenIrs63750623
Biobankrs63750623
1000 genomesrs63750623
hgdprs63750623
ensemblrs63750623
geneviewrs63750623
scholarrs63750623
googlers63750623
pharmgkbrs63750623
gwascentralrs63750623
openSNPrs63750623
23andMers63750623
SNPshotrs63750623
SNPdbers63750623
MSV3drs63750623
GWAS Ctlgrs63750623
Max Magnitude6
ClinVar
Risk rs63750623(G;G) rs63750623(T;T)
Alt rs63750623(G;G) rs63750623(T;T)
Reference Rs63750623(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.47707846C>G; NC_000002.11:g.47707846C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000076484.2, RCV000076485.2, RCV000491152.1,