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rs587781192

From SNPedia

Orientationminus
Geno Mag Summary
(TACTTAT;TACTTAT) 0 common in clinvar
Make rs587781192(-;-)
Make rs587781192(-;TACTTAT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371136
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781192
ebirs587781192
HLIrs587781192
Exacrs587781192
Varsomers587781192
Maprs587781192
PheGenIrs587781192
hapmaprs587781192
1000 genomesrs587781192
hgdprs587781192
ensemblrs587781192
gopubmedrs587781192
geneviewrs587781192
scholarrs587781192
googlers587781192
pharmgkbrs587781192
gwascentralrs587781192
openSNPrs587781192
23andMers587781192
23andMe allrs587781192
SNP Nexus

SNPshotrs587781192
SNPdbers587781192
MSV3drs587781192
GWAS Ctlgrs587781192
Max Magnitude0
ClinVar
Risk rs587781192(;)
Alt rs587781192(;)
Reference rs587781192(TACTTAT;TACTTAT)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616283_25616289delATAAGTA
CLNSRC
CLNACC RCV000144266.1,