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rs267607693

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
Make rs267607693(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429762
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607693
dbSNP (classic)rs267607693
ClinGenrs267607693
ebirs267607693
HLIrs267607693
Exacrs267607693
Gnomadrs267607693
Varsomers267607693
LitVarrs267607693
Maprs267607693
PheGenIrs267607693
Biobankrs267607693
1000 genomesrs267607693
hgdprs267607693
ensemblrs267607693
geneviewrs267607693
scholarrs267607693
googlers267607693
pharmgkbrs267607693
gwascentralrs267607693
openSNPrs267607693
23andMers267607693
SNPshotrs267607693
SNPdbers267607693
MSV3drs267607693
GWAS Ctlgrs267607693
Max Magnitude6
ClinVar
Risk rs267607693(A;A)
Alt rs267607693(A;A)
Reference Rs267607693(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47656901_47656902insA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076038.2,