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rs587781216

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587781216(-;-)
Make rs587781216(-;AAGTA)
Make rs587781216(AAGTA;AAGTA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354573
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781216
ebirs587781216
HLIrs587781216
Exacrs587781216
Varsomers587781216
Maprs587781216
PheGenIrs587781216
hapmaprs587781216
1000 genomesrs587781216
hgdprs587781216
ensemblrs587781216
gopubmedrs587781216
geneviewrs587781216
scholarrs587781216
googlers587781216
pharmgkbrs587781216
gwascentralrs587781216
openSNPrs587781216
23andMers587781216
23andMe allrs587781216
SNP Nexus

SNPshotrs587781216
SNPdbers587781216
MSV3drs587781216
GWAS Ctlgrs587781216
Max Magnitude0
ClinVar
Risk rs587781216(AAGTA;AAGTA)
Alt rs587781216(AAGTA;AAGTA)
Reference rs587781216(;)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599721_25599725dupTACTT
CLNSRC
CLNACC RCV000144290.1,