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rs587784515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587784515(A;A)
Make rs587784515(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25360477
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784515
dbSNP (classic)rs587784515
ClinGenrs587784515
ebirs587784515
HLIrs587784515
Exacrs587784515
Gnomadrs587784515
Varsomers587784515
LitVarrs587784515
Maprs587784515
PheGenIrs587784515
Biobankrs587784515
1000 genomesrs587784515
hgdprs587784515
ensemblrs587784515
geneviewrs587784515
scholarrs587784515
googlers587784515
pharmgkbrs587784515
gwascentralrs587784515
openSNPrs587784515
23andMers587784515
SNPshotrs587784515
SNPdbers587784515
MSV3drs587784515
GWAS Ctlgrs587784515
Max Magnitude0
ClinVar
Risk rs587784515(A;A)
Alt rs587784515(A;A)
Reference Rs587784515(T;T)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25605624A>T
CLNSRC
CLNACC RCV000147867.1,