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rs267607689

From SNPedia

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


Make rs267607689(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47410373
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607689
dbSNP (classic)rs267607689
ClinGenrs267607689
ebirs267607689
HLIrs267607689
Exacrs267607689
Gnomadrs267607689
Varsomers267607689
LitVarrs267607689
Maprs267607689
PheGenIrs267607689
Biobankrs267607689
1000 genomesrs267607689
hgdprs267607689
ensemblrs267607689
geneviewrs267607689
scholarrs267607689
googlers267607689
pharmgkbrs267607689
gwascentralrs267607689
openSNPrs267607689
23andMers267607689
SNPshotrs267607689
SNPdbers267607689
MSV3drs267607689
GWAS Ctlgrs267607689
Max Magnitude6
ClinVar
Risk rs267607689(A;A) rs267607689(T;T)
Alt rs267607689(A;A) rs267607689(T;T)
Reference Rs267607689(G;G)
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.47637512G>A; NC_000002.11:g.47637512G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076659.2, RCV000491616.1, RCV000076660.2, RCV000220374.1,