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rs267607690

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar
Make rs267607690(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478298
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607690
dbSNP (classic)rs267607690
ClinGenrs267607690
ebirs267607690
HLIrs267607690
Exacrs267607690
Gnomadrs267607690
Varsomers267607690
LitVarrs267607690
Maprs267607690
PheGenIrs267607690
Biobankrs267607690
1000 genomesrs267607690
hgdprs267607690
ensemblrs267607690
geneviewrs267607690
scholarrs267607690
googlers267607690
pharmgkbrs267607690
gwascentralrs267607690
openSNPrs267607690
23andMers267607690
SNPshotrs267607690
SNPdbers267607690
MSV3drs267607690
GWAS Ctlgrs267607690
Max Magnitude6
ClinVar
Risk rs267607690(A;A) rs267607690(AAT;AAT)
Alt rs267607690(A;A) rs267607690(AAT;AAT)
Reference Rs267607690(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47705435_47705437dupAAT; NC_000002.11:g.47705437_47705438insA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076438.2, RCV000076440.2,