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rs797046084

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046084(-;AA)
Make rs797046084(AA;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position25405459
GeneUBE3A
is asnp
is mentioned by
dbSNPrs797046084
dbSNP (old)rs797046084
ClinGenrs797046084
ebirs797046084
HLIrs797046084
Exacrs797046084
Gnomadrs797046084
Varsomers797046084
Maprs797046084
PheGenIrs797046084
Biobankrs797046084
1000 genomesrs797046084
hgdprs797046084
ensemblrs797046084
gopubmedrs797046084
geneviewrs797046084
scholarrs797046084
googlers797046084
pharmgkbrs797046084
gwascentralrs797046084
openSNPrs797046084
23andMers797046084
23andMe allrs797046084
SNP Nexus

SNPshotrs797046084
SNPdbers797046084
MSV3drs797046084
GWAS Ctlgrs797046084
Max Magnitude0
ClinVar
Risk rs797046084(AA;AA)
Alt rs797046084(AA;AA)
Reference Rs797046084(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25650606_25650607insTT
CLNSRC
CLNACC RCV000194951.1,