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rs797045996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045996(C;C)
Make rs797045996(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position110601122
GeneSMC3
is asnp
is mentioned by
dbSNPrs797045996
dbSNP (classic)rs797045996
ClinGenrs797045996
ebirs797045996
HLIrs797045996
Exacrs797045996
Gnomadrs797045996
Varsomers797045996
LitVarrs797045996
Maprs797045996
PheGenIrs797045996
Biobankrs797045996
1000 genomesrs797045996
hgdprs797045996
ensemblrs797045996
geneviewrs797045996
scholarrs797045996
googlers797045996
pharmgkbrs797045996
gwascentralrs797045996
openSNPrs797045996
23andMers797045996
SNPshotrs797045996
SNPdbers797045996
MSV3drs797045996
GWAS Ctlgrs797045996
Max Magnitude0
ClinVar
Risk rs797045996(C;C)
Alt rs797045996(C;C)
Reference Rs797045996(G;G)
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.112360880G>C
CLNSRC
CLNACC RCV000194687.1,