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rs797045070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045070(C;C)
Make rs797045070(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position110581962
GeneSMC3
is asnp
is mentioned by
dbSNPrs797045070
dbSNP (classic)rs797045070
ClinGenrs797045070
ebirs797045070
HLIrs797045070
Exacrs797045070
Gnomadrs797045070
Varsomers797045070
LitVarrs797045070
Maprs797045070
PheGenIrs797045070
Biobankrs797045070
1000 genomesrs797045070
hgdprs797045070
ensemblrs797045070
geneviewrs797045070
scholarrs797045070
googlers797045070
pharmgkbrs797045070
gwascentralrs797045070
openSNPrs797045070
23andMers797045070
SNPshotrs797045070
SNPdbers797045070
MSV3drs797045070
GWAS Ctlgrs797045070
Max Magnitude0
ClinVar
Risk rs797045070(C;C)
Alt rs797045070(C;C)
Reference Rs797045070(T;T)
Significance Probable-Pathogenic
Disease Cornelia de Lange syndrome 3
Variation info
Gene SMC3
CLNDBN Cornelia de Lange syndrome 3
Reversed 0
HGVS NC_000010.10:g.112341720T>C
CLNSRC Baylor College of Medicine
CLNACC RCV000191131.1,