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rs587784531

From SNPedia

Orientationminus
Geno Mag Summary
(ATTGGAAGAGTT;ATTGGAAGAGTT) 0 common in clinvar
Make rs587784531(-;-)
Make rs587784531(-;ATTGGAAGAGTT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371715
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784531
ebirs587784531
HLIrs587784531
Exacrs587784531
Varsomers587784531
Maprs587784531
PheGenIrs587784531
hapmaprs587784531
1000 genomesrs587784531
hgdprs587784531
ensemblrs587784531
gopubmedrs587784531
geneviewrs587784531
scholarrs587784531
googlers587784531
pharmgkbrs587784531
gwascentralrs587784531
openSNPrs587784531
23andMers587784531
23andMe allrs587784531
SNP Nexus

SNPshotrs587784531
SNPdbers587784531
MSV3drs587784531
GWAS Ctlgrs587784531
Max Magnitude0
ClinVar
Risk rs587784531(;)
Alt rs587784531(;)
Reference rs587784531(ATTGGAAGAGTT;ATTGGAAGAGTT)
Significance Probable-Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616862_25616873delAACTCTTCCAAT
CLNSRC
CLNACC RCV000147888.1,