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rs863225390

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome
Make rs863225390(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position47463038
GeneMSH2
is asnp
is mentioned by
dbSNPrs863225390
dbSNP (classic)rs863225390
ClinGenrs863225390
ebirs863225390
HLIrs863225390
Exacrs863225390
Gnomadrs863225390
Varsomers863225390
LitVarrs863225390
Maprs863225390
PheGenIrs863225390
Biobankrs863225390
1000 genomesrs863225390
hgdprs863225390
ensemblrs863225390
geneviewrs863225390
scholarrs863225390
googlers863225390
pharmgkbrs863225390
gwascentralrs863225390
openSNPrs863225390
23andMers863225390
SNPshotrs863225390
SNPdbers863225390
MSV3drs863225390
GWAS Ctlgrs863225390
Max Magnitude6

aka c.1394dupA as well as c.1394delA; both are considered in ClinVar to be pathogenic for Lynch syndrome

ClinVar
Risk rs863225390(A;A)
Alt rs863225390(A;A)
Reference Rs863225390(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene MSH2
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.47690177dupA
CLNSRC
CLNACC RCV000202241.1,