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rs587781219

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781219(C;T)
Make rs587781219(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354414
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781219
ebirs587781219
HLIrs587781219
Exacrs587781219
Varsomers587781219
Maprs587781219
PheGenIrs587781219
hapmaprs587781219
1000 genomesrs587781219
hgdprs587781219
ensemblrs587781219
gopubmedrs587781219
geneviewrs587781219
scholarrs587781219
googlers587781219
pharmgkbrs587781219
gwascentralrs587781219
openSNPrs587781219
23andMers587781219
23andMe allrs587781219
SNP Nexus

SNPshotrs587781219
SNPdbers587781219
MSV3drs587781219
GWAS Ctlgrs587781219
Max Magnitude0
ClinVar
Risk rs587781219(T;T)
Alt rs587781219(T;T)
Reference rs587781219(C;C)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599561G>A
CLNSRC
CLNACC RCV000144293.1,