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rs63750232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6 Lynch syndrome, pathogenic mutation
(G;G) 0 common in clinvar


Make rs63750232(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47476435
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750232
dbSNP (classic)rs63750232
ClinGenrs63750232
ebirs63750232
HLIrs63750232
Exacrs63750232
Gnomadrs63750232
Varsomers63750232
LitVarrs63750232
Maprs63750232
PheGenIrs63750232
Biobankrs63750232
1000 genomesrs63750232
hgdprs63750232
ensemblrs63750232
geneviewrs63750232
scholarrs63750232
googlers63750232
pharmgkbrs63750232
gwascentralrs63750232
openSNPrs63750232
23andMers63750232
SNPshotrs63750232
SNPdbers63750232
MSV3drs63750232
GWAS Ctlgrs63750232
Max Magnitude6
ClinVar
Risk rs63750232(A;A) rs63750232(C;C) rs63750232(T;T)
Alt rs63750232(A;A) rs63750232(C;C) rs63750232(T;T)
Reference Rs63750232(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene MSH2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47703574G>A; NC_000002.11:g.47703574G>C; NC_000002.11:g.47703574G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000490901.1, RCV000076380.2, RCV000491588.1, RCV000490880.1,