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rs63749993

From SNPedia

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


Make rs63749993(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47476424
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749993
dbSNP (classic)rs63749993
ClinGenrs63749993
ebirs63749993
HLIrs63749993
Exacrs63749993
Gnomadrs63749993
Varsomers63749993
LitVarrs63749993
Maprs63749993
PheGenIrs63749993
Biobankrs63749993
1000 genomesrs63749993
hgdprs63749993
ensemblrs63749993
geneviewrs63749993
scholarrs63749993
googlers63749993
pharmgkbrs63749993
gwascentralrs63749993
openSNPrs63749993
23andMers63749993
SNPshotrs63749993
SNPdbers63749993
MSV3drs63749993
GWAS Ctlgrs63749993
Max Magnitude6
ClinVar
Risk rs63749993(G;G)
Alt rs63749993(G;G)
Reference Rs63749993(T;T)
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.47703563T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076376.2, RCV000491088.1,