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rs587784513

From SNPedia

Orientationminus
Geno Mag Summary
(CTACAGCT;CTACAGCT) 0 common in clinvar
Make rs587784513(-;-)
Make rs587784513(-;CTACAGCT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25370646
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784513
ebirs587784513
HLIrs587784513
Exacrs587784513
Varsomers587784513
Maprs587784513
PheGenIrs587784513
hapmaprs587784513
1000 genomesrs587784513
hgdprs587784513
ensemblrs587784513
gopubmedrs587784513
geneviewrs587784513
scholarrs587784513
googlers587784513
pharmgkbrs587784513
gwascentralrs587784513
openSNPrs587784513
23andMers587784513
23andMe allrs587784513
SNP Nexus

SNPshotrs587784513
SNPdbers587784513
MSV3drs587784513
GWAS Ctlgrs587784513
Max Magnitude0
ClinVar
Risk rs587784513(;)
Alt rs587784513(;)
Reference rs587784513(CTACAGCT;CTACAGCT)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25615793_25615800delAGCTGTAG
CLNSRC
CLNACC RCV000147865.1,