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rs587780569

From SNPedia

Orientationminus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs587780569(-;-)
Make rs587780569(-;AAAG)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25375486
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587780569
ebirs587780569
HLIrs587780569
Exacrs587780569
Varsomers587780569
Maprs587780569
PheGenIrs587780569
hapmaprs587780569
1000 genomesrs587780569
hgdprs587780569
ensemblrs587780569
gopubmedrs587780569
geneviewrs587780569
scholarrs587780569
googlers587780569
pharmgkbrs587780569
gwascentralrs587780569
openSNPrs587780569
23andMers587780569
23andMe allrs587780569
SNP Nexus

SNPshotrs587780569
SNPdbers587780569
MSV3drs587780569
GWAS Ctlgrs587780569
Max Magnitude0
ClinVar
Risk rs587780569(;)
Alt rs587780569(;)
Reference rs587780569(AAAG;AAAG)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25620633_25620636delCTTT
CLNSRC
CLNACC RCV000144542.1,