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rs267607962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Lynch syndrome, pathogenic mutation
Make rs267607962(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47466656
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607962
dbSNP (classic)rs267607962
ClinGenrs267607962
ebirs267607962
HLIrs267607962
Exacrs267607962
Gnomadrs267607962
Varsomers267607962
LitVarrs267607962
Maprs267607962
PheGenIrs267607962
Biobankrs267607962
1000 genomesrs267607962
hgdprs267607962
ensemblrs267607962
geneviewrs267607962
scholarrs267607962
googlers267607962
pharmgkbrs267607962
gwascentralrs267607962
openSNPrs267607962
23andMers267607962
SNPshotrs267607962
SNPdbers267607962
MSV3drs267607962
GWAS Ctlgrs267607962
Max Magnitude6
ClinVar
Risk rs267607962(G;G)
Alt rs267607962(G;G)
Reference Rs267607962(A;A)
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.47693795A>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076184.2, RCV000491325.1,