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rs267607957

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
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs267607957(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47445658
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607957
dbSNP (classic)rs267607957
ClinGenrs267607957
ebirs267607957
HLIrs267607957
Exacrs267607957
Gnomadrs267607957
Varsomers267607957
LitVarrs267607957
Maprs267607957
PheGenIrs267607957
Biobankrs267607957
1000 genomesrs267607957
hgdprs267607957
ensemblrs267607957
geneviewrs267607957
scholarrs267607957
googlers267607957
pharmgkbrs267607957
gwascentralrs267607957
openSNPrs267607957
23andMers267607957
SNPshotrs267607957
SNPdbers267607957
MSV3drs267607957
GWAS Ctlgrs267607957
Max Magnitude6

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer [PMID 27978560OA-icon.png]

ClinVar
Risk rs267607957(A;A) rs267607957(C;C) rs267607957(T;T)
Alt rs267607957(A;A) rs267607957(C;C) rs267607957(T;T)
Reference Rs267607957(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.47672797G>A; NC_000002.11:g.47672797G>C; NC_000002.11:g.47672797G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076137.3, RCV000491969.1, RCV000076138.2, RCV000076139.2,