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rs587781217

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587781217(A;A)
Make rs587781217(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354571
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781217
ebirs587781217
HLIrs587781217
Exacrs587781217
Varsomers587781217
Maprs587781217
PheGenIrs587781217
hapmaprs587781217
1000 genomesrs587781217
hgdprs587781217
ensemblrs587781217
gopubmedrs587781217
geneviewrs587781217
scholarrs587781217
googlers587781217
pharmgkbrs587781217
gwascentralrs587781217
openSNPrs587781217
23andMers587781217
23andMe allrs587781217
SNP Nexus

SNPshotrs587781217
SNPdbers587781217
MSV3drs587781217
GWAS Ctlgrs587781217
Max Magnitude0
ClinVar
Risk rs587781217(A;A)
Alt rs587781217(A;A)
Reference rs587781217(T;T)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599718A>T
CLNSRC
CLNACC RCV000144291.1,