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rs587780576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587780576(A;A)
Make rs587780576(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371397
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587780576
dbSNP (classic)rs587780576
ClinGenrs587780576
ebirs587780576
HLIrs587780576
Exacrs587780576
Gnomadrs587780576
Varsomers587780576
LitVarrs587780576
Maprs587780576
PheGenIrs587780576
Biobankrs587780576
1000 genomesrs587780576
hgdprs587780576
ensemblrs587780576
geneviewrs587780576
scholarrs587780576
googlers587780576
pharmgkbrs587780576
gwascentralrs587780576
openSNPrs587780576
23andMers587780576
SNPshotrs587780576
SNPdbers587780576
MSV3drs587780576
GWAS Ctlgrs587780576
Max Magnitude0
ClinVar
Risk rs587780576(A;A)
Alt rs587780576(A;A)
Reference Rs587780576(T;T)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616544A>T
CLNSRC
CLNACC RCV000144549.1,