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rs587784532

From SNPedia

Orientationminus
Geno Mag Summary
(GAAAAGG;GAAAAGG) 0 common in clinvar
Make rs587784532(-;-)
Make rs587784532(-;GAAAAGG)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371603
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784532
ebirs587784532
HLIrs587784532
Exacrs587784532
Varsomers587784532
Maprs587784532
PheGenIrs587784532
hapmaprs587784532
1000 genomesrs587784532
hgdprs587784532
ensemblrs587784532
gopubmedrs587784532
geneviewrs587784532
scholarrs587784532
googlers587784532
pharmgkbrs587784532
gwascentralrs587784532
openSNPrs587784532
23andMers587784532
23andMe allrs587784532
SNP Nexus

SNPshotrs587784532
SNPdbers587784532
MSV3drs587784532
GWAS Ctlgrs587784532
Max Magnitude0
ClinVar
Risk rs587784532(;)
Alt rs587784532(;)
Reference rs587784532(GAAAAGG;GAAAAGG)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616750_25616756delCCTTTTC
CLNSRC
CLNACC RCV000147889.1,