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rs587781220

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781220(G;T)
Make rs587781220(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354402
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781220
ebirs587781220
HLIrs587781220
Exacrs587781220
Varsomers587781220
Maprs587781220
PheGenIrs587781220
hapmaprs587781220
1000 genomesrs587781220
hgdprs587781220
ensemblrs587781220
gopubmedrs587781220
geneviewrs587781220
scholarrs587781220
googlers587781220
pharmgkbrs587781220
gwascentralrs587781220
openSNPrs587781220
23andMers587781220
23andMe allrs587781220
SNP Nexus

SNPshotrs587781220
SNPdbers587781220
MSV3drs587781220
GWAS Ctlgrs587781220
Max Magnitude0
ClinVar
Risk rs587781220(T;T)
Alt rs587781220(T;T)
Reference rs587781220(G;G)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599549C>A
CLNSRC
CLNACC RCV000144294.2,