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rs267607953

From SNPedia

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


Make rs267607953(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429943
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607953
dbSNP (classic)rs267607953
ClinGenrs267607953
ebirs267607953
HLIrs267607953
Exacrs267607953
Gnomadrs267607953
Varsomers267607953
LitVarrs267607953
Maprs267607953
PheGenIrs267607953
Biobankrs267607953
1000 genomesrs267607953
hgdprs267607953
ensemblrs267607953
geneviewrs267607953
scholarrs267607953
googlers267607953
pharmgkbrs267607953
gwascentralrs267607953
openSNPrs267607953
23andMers267607953
SNPshotrs267607953
SNPdbers267607953
MSV3drs267607953
GWAS Ctlgrs267607953
Max Magnitude6
ClinVar
Risk rs267607953(A;A) rs267607953(C;C)
Alt rs267607953(A;A) rs267607953(C;C)
Reference Rs267607953(T;T)
Significance Other
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47657082T>A; NC_000002.11:g.47657082T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076091.2, RCV000202216.3, RCV000460835.1, RCV000492023.1,