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rs797046086

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046086(-;AAGA)
Make rs797046086(AAGA;AAGA)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position25340182
GeneUBE3A
is asnp
is mentioned by
dbSNPrs797046086
dbSNP (classic)rs797046086
ClinGenrs797046086
ebirs797046086
HLIrs797046086
Exacrs797046086
Gnomadrs797046086
Varsomers797046086
LitVarrs797046086
Maprs797046086
PheGenIrs797046086
Biobankrs797046086
1000 genomesrs797046086
hgdprs797046086
ensemblrs797046086
geneviewrs797046086
scholarrs797046086
googlers797046086
pharmgkbrs797046086
gwascentralrs797046086
openSNPrs797046086
23andMers797046086
SNPshotrs797046086
SNPdbers797046086
MSV3drs797046086
GWAS Ctlgrs797046086
Max Magnitude0
ClinVar
Risk rs797046086(AAGA;AAGA)
Alt rs797046086(AAGA;AAGA)
Reference Rs797046086(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25585330_25585333dupTCTT
CLNSRC
CLNACC RCV000193045.1,