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rs587784520

From SNPedia

Orientationminus
Geno Mag Summary
(ATTG;ATTG) 0 common in clinvar
Make rs587784520(-;-)
Make rs587784520(-;ATTG)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25356813
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784520
ebirs587784520
HLIrs587784520
Exacrs587784520
Varsomers587784520
Maprs587784520
PheGenIrs587784520
hapmaprs587784520
1000 genomesrs587784520
hgdprs587784520
ensemblrs587784520
gopubmedrs587784520
geneviewrs587784520
scholarrs587784520
googlers587784520
pharmgkbrs587784520
gwascentralrs587784520
openSNPrs587784520
23andMers587784520
23andMe allrs587784520
SNP Nexus

SNPshotrs587784520
SNPdbers587784520
MSV3drs587784520
GWAS Ctlgrs587784520
Max Magnitude0
ClinVar
Risk rs587784520(;)
Alt rs587784520(;)
Reference rs587784520(ATTG;ATTG)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601960_25601963delCAAT
CLNSRC
CLNACC RCV000147874.1,