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rs267607929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TAGATAATTCAA) 6 Lynch syndrome, pathogenic mutation
(AATAGATAATTC;AATAGATAATTC) 0 common in clinvar
(TAGATAATTCAA;TAGATAATTCAA) 0 common in clinvar


Make rs267607929(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47412411
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607929
dbSNP (classic)rs267607929
ClinGenrs267607929
ebirs267607929
HLIrs267607929
Exacrs267607929
Gnomadrs267607929
Varsomers267607929
LitVarrs267607929
Maprs267607929
PheGenIrs267607929
Biobankrs267607929
1000 genomesrs267607929
hgdprs267607929
ensemblrs267607929
geneviewrs267607929
scholarrs267607929
googlers267607929
pharmgkbrs267607929
gwascentralrs267607929
openSNPrs267607929
23andMers267607929
SNPshotrs267607929
SNPdbers267607929
MSV3drs267607929
GWAS Ctlgrs267607929
Max Magnitude6
ClinVar
Risk rs267607929(-;-)
Alt rs267607929(-;-)
Reference Rs267607929(AATAGATAATTC;AATAGATAATTC)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47639550_47639561delTAGATAATTCAA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076667.2,