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rs797045997

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045997(-;GAA)
Make rs797045997(GAA;GAA)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position110583440
GeneSMC3
is asnp
is mentioned by
dbSNPrs797045997
ClinGenrs797045997
ebirs797045997
HLIrs797045997
Exacrs797045997
Varsomers797045997
Maprs797045997
PheGenIrs797045997
hapmaprs797045997
1000 genomesrs797045997
hgdprs797045997
ensemblrs797045997
gopubmedrs797045997
geneviewrs797045997
scholarrs797045997
googlers797045997
pharmgkbrs797045997
gwascentralrs797045997
openSNPrs797045997
23andMers797045997
23andMe allrs797045997
SNP Nexus

SNPshotrs797045997
SNPdbers797045997
MSV3drs797045997
GWAS Ctlgrs797045997
Max Magnitude0
ClinVar
Risk rs797045997(AAG;AAG)
Alt rs797045997(AAG;AAG)
Reference Rs797045997(-;-)
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.112343196_112343198dupGAA
CLNSRC
CLNACC RCV000192327.1,