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rs797046088

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046088(-;T)
Make rs797046088(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position25339148
GeneUBE3A
is asnp
is mentioned by
dbSNPrs797046088
ClinGenrs797046088
ebirs797046088
HLIrs797046088
Exacrs797046088
Varsomers797046088
Maprs797046088
PheGenIrs797046088
hapmaprs797046088
1000 genomesrs797046088
hgdprs797046088
ensemblrs797046088
gopubmedrs797046088
geneviewrs797046088
scholarrs797046088
googlers797046088
pharmgkbrs797046088
gwascentralrs797046088
openSNPrs797046088
23andMers797046088
23andMe allrs797046088
SNP Nexus

SNPshotrs797046088
SNPdbers797046088
MSV3drs797046088
GWAS Ctlgrs797046088
Max Magnitude0
ClinVar
Risk rs797046088(T;T)
Alt rs797046088(T;T)
Reference Rs797046088(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584296dupA
CLNSRC
CLNACC RCV000194248.1,