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rs587781225

From SNPedia

Orientationminus
Geno Mag Summary
(CAGA;CAGA) 0 common in clinvar
Make rs587781225(-;-)
Make rs587781225(-;CAGA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25340150
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781225
ebirs587781225
HLIrs587781225
Exacrs587781225
Varsomers587781225
Maprs587781225
PheGenIrs587781225
hapmaprs587781225
1000 genomesrs587781225
hgdprs587781225
ensemblrs587781225
gopubmedrs587781225
geneviewrs587781225
scholarrs587781225
googlers587781225
pharmgkbrs587781225
gwascentralrs587781225
openSNPrs587781225
23andMers587781225
23andMe allrs587781225
SNP Nexus

SNPshotrs587781225
SNPdbers587781225
MSV3drs587781225
GWAS Ctlgrs587781225
Max Magnitude0
ClinVar
Risk rs587781225(;)
Alt rs587781225(;)
Reference rs587781225(CAGA;CAGA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25585297_25585300delTCTG
CLNSRC
CLNACC RCV000144299.1,