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rs587780585

From SNPedia

Orientationminus
Geno Mag Summary
(GACATGTCCCTTTAT;GACATGTCCCTTTAT) 0 common in clinvar
Make rs587780585(-;-)
Make rs587780585(-;GACATGTCCCTTTAT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25370735
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587780585
ebirs587780585
HLIrs587780585
Exacrs587780585
Varsomers587780585
Maprs587780585
PheGenIrs587780585
hapmaprs587780585
1000 genomesrs587780585
hgdprs587780585
ensemblrs587780585
gopubmedrs587780585
geneviewrs587780585
scholarrs587780585
googlers587780585
pharmgkbrs587780585
gwascentralrs587780585
openSNPrs587780585
23andMers587780585
23andMe allrs587780585
SNP Nexus

SNPshotrs587780585
SNPdbers587780585
MSV3drs587780585
GWAS Ctlgrs587780585
Max Magnitude0
ClinVar
Risk rs587780585(;)
Alt rs587780585(;)
Reference rs587780585(GACATGTCCCTTTAT;GACATGTCCCTTTAT)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25615882_25615896delATAAAGGGACATGTC
CLNSRC
CLNACC RCV000144559.1,