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rs267607920

From SNPedia

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


Make rs267607920(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47408452
GeneMSH2
is asnp
is mentioned by
dbSNPrs267607920
dbSNP (classic)rs267607920
ClinGenrs267607920
ebirs267607920
HLIrs267607920
Exacrs267607920
Gnomadrs267607920
Varsomers267607920
LitVarrs267607920
Maprs267607920
PheGenIrs267607920
Biobankrs267607920
1000 genomesrs267607920
hgdprs267607920
ensemblrs267607920
geneviewrs267607920
scholarrs267607920
googlers267607920
pharmgkbrs267607920
gwascentralrs267607920
openSNPrs267607920
23andMers267607920
SNPshotrs267607920
SNPdbers267607920
MSV3drs267607920
GWAS Ctlgrs267607920
Max Magnitude6

aka both c.264dupT as well as c.263_264delTT

ClinVar
Risk rs267607920(-;-)
Alt rs267607920(-;-)
Reference Rs267607920(TT;TT)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47635591_47635592delTT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076531.2,