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rs587784534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784534(C;T)
Make rs587784534(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371150
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784534
dbSNP (classic)rs587784534
ClinGenrs587784534
ebirs587784534
HLIrs587784534
Exacrs587784534
Gnomadrs587784534
Varsomers587784534
LitVarrs587784534
Maprs587784534
PheGenIrs587784534
Biobankrs587784534
1000 genomesrs587784534
hgdprs587784534
ensemblrs587784534
geneviewrs587784534
scholarrs587784534
googlers587784534
pharmgkbrs587784534
gwascentralrs587784534
openSNPrs587784534
23andMers587784534
SNPshotrs587784534
SNPdbers587784534
MSV3drs587784534
GWAS Ctlgrs587784534
Max Magnitude0
ClinVar
Risk rs587784534(T;T)
Alt rs587784534(T;T)
Reference Rs587784534(C;C)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616297G>A
CLNSRC
CLNACC RCV000147892.1,