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rs587781209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(I;I) 0 common genotype
(TACTGGATGTA;TACTGGATGTA) 0 common in clinvar
Make rs587781209(-;-)
Make rs587781209(-;TACTGGATGTA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25356766
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781209
dbSNP (classic)rs587781209
ClinGenrs587781209
ebirs587781209
HLIrs587781209
Exacrs587781209
Gnomadrs587781209
Varsomers587781209
LitVarrs587781209
Maprs587781209
PheGenIrs587781209
Biobankrs587781209
1000 genomesrs587781209
hgdprs587781209
ensemblrs587781209
geneviewrs587781209
scholarrs587781209
googlers587781209
pharmgkbrs587781209
gwascentralrs587781209
openSNPrs587781209
23andMers587781209
SNPshotrs587781209
SNPdbers587781209
MSV3drs587781209
GWAS Ctlgrs587781209
Max Magnitude0
ClinVar
Risk rs587781209(-;-)
Alt rs587781209(-;-)
Reference Rs587781209(TACTGGATGTA;TACTGGATGTA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601913_25601923delTACATCCAGTA
CLNSRC
CLNACC RCV000144283.1,