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rs587781224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs587781224(-;-)
Make rs587781224(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25340178
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781224
dbSNP (classic)rs587781224
ClinGenrs587781224
ebirs587781224
HLIrs587781224
Exacrs587781224
Gnomadrs587781224
Varsomers587781224
LitVarrs587781224
Maprs587781224
PheGenIrs587781224
Biobankrs587781224
1000 genomesrs587781224
hgdprs587781224
ensemblrs587781224
geneviewrs587781224
scholarrs587781224
googlers587781224
pharmgkbrs587781224
gwascentralrs587781224
openSNPrs587781224
23andMers587781224
SNPshotrs587781224
SNPdbers587781224
MSV3drs587781224
GWAS Ctlgrs587781224
Max Magnitude0
ClinVar
Risk rs587781224(-;-)
Alt rs587781224(-;-)
Reference Rs587781224(TT;TT)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25585325_25585326delAA
CLNSRC
CLNACC RCV000144298.1,