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rs863225259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACT;ACT) 0 common in clinvar
Make rs863225259(-;-)
Make rs863225259(-;ACT)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position110582078
GeneSMC3
is asnp
is mentioned by
dbSNPrs863225259
dbSNP (classic)rs863225259
ClinGenrs863225259
ebirs863225259
HLIrs863225259
Exacrs863225259
Gnomadrs863225259
Varsomers863225259
LitVarrs863225259
Maprs863225259
PheGenIrs863225259
Biobankrs863225259
1000 genomesrs863225259
hgdprs863225259
ensemblrs863225259
geneviewrs863225259
scholarrs863225259
googlers863225259
pharmgkbrs863225259
gwascentralrs863225259
openSNPrs863225259
23andMers863225259
SNPshotrs863225259
SNPdbers863225259
MSV3drs863225259
GWAS Ctlgrs863225259
Max Magnitude0
ClinVar
Risk rs863225259(-;-)
Alt rs863225259(-;-)
Reference Rs863225259(ACT;ACT)
Significance Pathogenic
Disease Cornelia de Lange syndrome 3
Variation info
Gene SMC3
CLNDBN Cornelia de Lange syndrome 3
Reversed 0
HGVS NC_000010.10:g.112341836_112341838delACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000201849.1,