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rs587784530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784530(-;-)
Make rs587784530(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371734
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784530
dbSNP (classic)rs587784530
ClinGenrs587784530
ebirs587784530
HLIrs587784530
Exacrs587784530
Gnomadrs587784530
Varsomers587784530
LitVarrs587784530
Maprs587784530
PheGenIrs587784530
Biobankrs587784530
1000 genomesrs587784530
hgdprs587784530
ensemblrs587784530
geneviewrs587784530
scholarrs587784530
googlers587784530
pharmgkbrs587784530
gwascentralrs587784530
openSNPrs587784530
23andMers587784530
SNPshotrs587784530
SNPdbers587784530
MSV3drs587784530
GWAS Ctlgrs587784530
Max Magnitude0
ClinVar
Risk rs587784530(-;-)
Alt rs587784530(-;-)
Reference Rs587784530(T;T)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616881delA
CLNSRC
CLNACC RCV000147887.1,