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rs63750630

From SNPedia

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


Make rs63750630(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47416342
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750630
dbSNP (classic)rs63750630
ClinGenrs63750630
ebirs63750630
HLIrs63750630
Exacrs63750630
Gnomadrs63750630
Varsomers63750630
LitVarrs63750630
Maprs63750630
PheGenIrs63750630
Biobankrs63750630
1000 genomesrs63750630
hgdprs63750630
ensemblrs63750630
geneviewrs63750630
scholarrs63750630
googlers63750630
pharmgkbrs63750630
gwascentralrs63750630
openSNPrs63750630
23andMers63750630
SNPshotrs63750630
SNPdbers63750630
MSV3drs63750630
GWAS Ctlgrs63750630
Max Magnitude6
ClinVar
Risk rs63750630(C;C)
Alt rs63750630(C;C)
Reference Rs63750630(T;T)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47643481T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076775.2,