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rs587781238

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAT;GAT) 0 common in clinvar
Make rs587781238(-;-)
Make rs587781238(-;GAT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25340115
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781238
dbSNP (classic)rs587781238
ClinGenrs587781238
ebirs587781238
HLIrs587781238
Exacrs587781238
Gnomadrs587781238
Varsomers587781238
LitVarrs587781238
Maprs587781238
PheGenIrs587781238
Biobankrs587781238
1000 genomesrs587781238
hgdprs587781238
ensemblrs587781238
geneviewrs587781238
scholarrs587781238
googlers587781238
pharmgkbrs587781238
gwascentralrs587781238
openSNPrs587781238
23andMers587781238
SNPshotrs587781238
SNPdbers587781238
MSV3drs587781238
GWAS Ctlgrs587781238
Max Magnitude0
ClinVar
Risk rs587781238(-;-)
Alt rs587781238(-;-)
Reference Rs587781238(GAT;GAT)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25585262_25585264delATC
CLNSRC
CLNACC RCV000144314.2,