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rs587781223

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587781223(-;-)
Make rs587781223(-;G)
Make rs587781223(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354357
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781223
ebirs587781223
HLIrs587781223
Exacrs587781223
Varsomers587781223
Maprs587781223
PheGenIrs587781223
hapmaprs587781223
1000 genomesrs587781223
hgdprs587781223
ensemblrs587781223
gopubmedrs587781223
geneviewrs587781223
scholarrs587781223
googlers587781223
pharmgkbrs587781223
gwascentralrs587781223
openSNPrs587781223
23andMers587781223
23andMe allrs587781223
SNP Nexus

SNPshotrs587781223
SNPdbers587781223
MSV3drs587781223
GWAS Ctlgrs587781223
Max Magnitude0
ClinVar
Risk rs587781223(G;G)
Alt rs587781223(G;G)
Reference rs587781223(;)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599505dupC
CLNSRC
CLNACC RCV000144297.1,