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rs587784518

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784518(A;G)
Make rs587784518(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25360388
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784518
ebirs587784518
HLIrs587784518
Exacrs587784518
Varsomers587784518
Maprs587784518
PheGenIrs587784518
hapmaprs587784518
1000 genomesrs587784518
hgdprs587784518
ensemblrs587784518
gopubmedrs587784518
geneviewrs587784518
scholarrs587784518
googlers587784518
pharmgkbrs587784518
gwascentralrs587784518
openSNPrs587784518
23andMers587784518
23andMe allrs587784518
SNP Nexus

SNPshotrs587784518
SNPdbers587784518
MSV3drs587784518
GWAS Ctlgrs587784518
Max Magnitude0
ClinVar
Risk rs587784518(G;G)
Alt rs587784518(G;G)
Reference rs587784518(A;A)
Significance Probable-Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25605535T>C
CLNSRC
CLNACC RCV000147870.1,