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rs794727738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs794727738(-;-)
Make rs794727738(-;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position25356827
GeneUBE3A
is asnp
is mentioned by
dbSNPrs794727738
dbSNP (classic)rs794727738
ClinGenrs794727738
ebirs794727738
HLIrs794727738
Exacrs794727738
Gnomadrs794727738
Varsomers794727738
LitVarrs794727738
Maprs794727738
PheGenIrs794727738
Biobankrs794727738
1000 genomesrs794727738
hgdprs794727738
ensemblrs794727738
geneviewrs794727738
scholarrs794727738
googlers794727738
pharmgkbrs794727738
gwascentralrs794727738
openSNPrs794727738
23andMers794727738
SNPshotrs794727738
SNPdbers794727738
MSV3drs794727738
GWAS Ctlgrs794727738
Max Magnitude0
ClinVar
Risk rs794727738(-;-)
Alt rs794727738(-;-)
Reference Rs794727738(CA;CA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601974_25601975delTG
CLNSRC
CLNACC RCV000179007.1,