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rs587784529

From SNPedia

Orientationminus
Geno Mag Summary
(CAGAA;CAGAA) 0 common in clinvar
Make rs587784529(-;-)
Make rs587784529(-;CAGAA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371793
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784529
ebirs587784529
HLIrs587784529
Exacrs587784529
Varsomers587784529
Maprs587784529
PheGenIrs587784529
hapmaprs587784529
1000 genomesrs587784529
hgdprs587784529
ensemblrs587784529
gopubmedrs587784529
geneviewrs587784529
scholarrs587784529
googlers587784529
pharmgkbrs587784529
gwascentralrs587784529
openSNPrs587784529
23andMers587784529
23andMe allrs587784529
SNP Nexus

SNPshotrs587784529
SNPdbers587784529
MSV3drs587784529
GWAS Ctlgrs587784529
Max Magnitude0
ClinVar
Risk rs587784529(;)
Alt rs587784529(;)
Reference rs587784529(CAGAA;CAGAA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616940_25616944delTTCTG
CLNSRC
CLNACC RCV000147886.1,