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rs587784514

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784514(G;T)
Make rs587784514(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25360509
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784514
ebirs587784514
HLIrs587784514
Exacrs587784514
Varsomers587784514
Maprs587784514
PheGenIrs587784514
hapmaprs587784514
1000 genomesrs587784514
hgdprs587784514
ensemblrs587784514
gopubmedrs587784514
geneviewrs587784514
scholarrs587784514
googlers587784514
pharmgkbrs587784514
gwascentralrs587784514
openSNPrs587784514
23andMers587784514
23andMe allrs587784514
SNP Nexus

SNPshotrs587784514
SNPdbers587784514
MSV3drs587784514
GWAS Ctlgrs587784514
Max Magnitude0
ClinVar
Risk rs587784514(T;T)
Alt rs587784514(T;T)
Reference rs587784514(G;G)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25605656C>A
CLNSRC
CLNACC RCV000147866.1,