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rs267607988

From SNPedia

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


Make rs267607988(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47476366
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607988
dbSNP (classic)rs267607988
ClinGenrs267607988
ebirs267607988
HLIrs267607988
Exacrs267607988
Gnomadrs267607988
Varsomers267607988
LitVarrs267607988
Maprs267607988
PheGenIrs267607988
Biobankrs267607988
1000 genomesrs267607988
hgdprs267607988
ensemblrs267607988
geneviewrs267607988
scholarrs267607988
googlers267607988
pharmgkbrs267607988
gwascentralrs267607988
openSNPrs267607988
23andMers267607988
SNPshotrs267607988
SNPdbers267607988
MSV3drs267607988
GWAS Ctlgrs267607988
Max Magnitude6
ClinVar
Risk rs267607988(C;C)
Alt rs267607988(C;C)
Reference Rs267607988(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.47703505G>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076347.2, RCV000491159.1,