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rs587784516

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784516(A;A)
Make rs587784516(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25360442
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784516
ebirs587784516
HLIrs587784516
Exacrs587784516
Varsomers587784516
Maprs587784516
PheGenIrs587784516
hapmaprs587784516
1000 genomesrs587784516
hgdprs587784516
ensemblrs587784516
gopubmedrs587784516
geneviewrs587784516
scholarrs587784516
googlers587784516
pharmgkbrs587784516
gwascentralrs587784516
openSNPrs587784516
23andMers587784516
23andMe allrs587784516
SNP Nexus

SNPshotrs587784516
SNPdbers587784516
MSV3drs587784516
GWAS Ctlgrs587784516
Max Magnitude0
ClinVar
Risk rs587784516(A;A)
Alt rs587784516(A;A)
Reference rs587784516(G;G)
Significance Probable-Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25605589C>T
CLNSRC
CLNACC RCV000147868.1,