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rs267607948

From SNPedia

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


Make rs267607948(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47445547
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607948
dbSNP (classic)rs267607948
ClinGenrs267607948
ebirs267607948
HLIrs267607948
Exacrs267607948
Gnomadrs267607948
Varsomers267607948
LitVarrs267607948
Maprs267607948
PheGenIrs267607948
Biobankrs267607948
1000 genomesrs267607948
hgdprs267607948
ensemblrs267607948
geneviewrs267607948
scholarrs267607948
googlers267607948
pharmgkbrs267607948
gwascentralrs267607948
openSNPrs267607948
23andMers267607948
SNPshotrs267607948
SNPdbers267607948
MSV3drs267607948
GWAS Ctlgrs267607948
Max Magnitude6
ClinVar
Risk rs267607948(A;A) rs267607948(C;C)
Alt rs267607948(A;A) rs267607948(C;C)
Reference Rs267607948(G;G)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47672686G>A; NC_000002.11:g.47672686G>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076097.2, RCV000076098.2,