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rs587781212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587781212(-;A)
Make rs587781212(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25355998
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781212
dbSNP (classic)rs587781212
ClinGenrs587781212
ebirs587781212
HLIrs587781212
Exacrs587781212
Gnomadrs587781212
Varsomers587781212
LitVarrs587781212
Maprs587781212
PheGenIrs587781212
Biobankrs587781212
1000 genomesrs587781212
hgdprs587781212
ensemblrs587781212
geneviewrs587781212
scholarrs587781212
googlers587781212
pharmgkbrs587781212
gwascentralrs587781212
openSNPrs587781212
23andMers587781212
SNPshotrs587781212
SNPdbers587781212
MSV3drs587781212
GWAS Ctlgrs587781212
Max Magnitude0
ClinVar
Risk rs587781212(A;A)
Alt rs587781212(A;A)
Reference Rs587781212(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601146dupT
CLNSRC
CLNACC RCV000144286.1,