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rs587781210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs587781210(-;-)
Make rs587781210(-;AG)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25356043
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781210
dbSNP (classic)rs587781210
ClinGenrs587781210
ebirs587781210
HLIrs587781210
Exacrs587781210
Gnomadrs587781210
Varsomers587781210
LitVarrs587781210
Maprs587781210
PheGenIrs587781210
Biobankrs587781210
1000 genomesrs587781210
hgdprs587781210
ensemblrs587781210
geneviewrs587781210
scholarrs587781210
googlers587781210
pharmgkbrs587781210
gwascentralrs587781210
openSNPrs587781210
23andMers587781210
SNPshotrs587781210
SNPdbers587781210
MSV3drs587781210
GWAS Ctlgrs587781210
Max Magnitude0
ClinVar
Risk rs587781210(-;-)
Alt rs587781210(-;-)
Reference Rs587781210(AG;AG)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601190_25601191delCT
CLNSRC
CLNACC RCV000144284.1,