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rs587780573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780573(-;-)
Make rs587780573(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371567
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587780573
dbSNP (classic)rs587780573
ClinGenrs587780573
ebirs587780573
HLIrs587780573
Exacrs587780573
Gnomadrs587780573
Varsomers587780573
LitVarrs587780573
Maprs587780573
PheGenIrs587780573
Biobankrs587780573
1000 genomesrs587780573
hgdprs587780573
ensemblrs587780573
geneviewrs587780573
scholarrs587780573
googlers587780573
pharmgkbrs587780573
gwascentralrs587780573
openSNPrs587780573
23andMers587780573
SNPshotrs587780573
SNPdbers587780573
MSV3drs587780573
GWAS Ctlgrs587780573
Max Magnitude0
ClinVar
Risk rs587780573(-;-)
Alt rs587780573(-;-)
Reference Rs587780573(G;G)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616714delC
CLNSRC
CLNACC RCV000144546.1,