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rs63749917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63749917(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478507
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749917
dbSNP (classic)rs63749917
ClinGenrs63749917
ebirs63749917
HLIrs63749917
Exacrs63749917
Gnomadrs63749917
Varsomers63749917
LitVarrs63749917
Maprs63749917
PheGenIrs63749917
Biobankrs63749917
1000 genomesrs63749917
hgdprs63749917
ensemblrs63749917
geneviewrs63749917
scholarrs63749917
googlers63749917
pharmgkbrs63749917
gwascentralrs63749917
openSNPrs63749917
23andMers63749917
SNPshotrs63749917
SNPdbers63749917
MSV3drs63749917
GWAS Ctlgrs63749917
Max Magnitude6
ClinVar
Risk rs63749917(T;T)
Alt rs63749917(T;T)
Reference Rs63749917(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47705646C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076476.2,