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rs63750843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750843(C;G)
Make rs63750843(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410235
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750843
dbSNP (classic)rs63750843
ClinGenrs63750843
ebirs63750843
HLIrs63750843
Exacrs63750843
Gnomadrs63750843
Varsomers63750843
LitVarrs63750843
Maprs63750843
PheGenIrs63750843
Biobankrs63750843
1000 genomesrs63750843
hgdprs63750843
ensemblrs63750843
geneviewrs63750843
scholarrs63750843
googlers63750843
pharmgkbrs63750843
gwascentralrs63750843
openSNPrs63750843
23andMers63750843
SNPshotrs63750843
SNPdbers63750843
MSV3drs63750843
GWAS Ctlgrs63750843
Max Magnitude6
ClinVar
Risk rs63750843(G;G) rs63750843(T;T)
Alt rs63750843(G;G) rs63750843(T;T)
Reference Rs63750843(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47637374C>G; NC_000002.11:g.47637374C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000204442.1, RCV000214137.1, RCV000076621.2, RCV000236121.2, RCV000491287.1,