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rs587781231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs587781231(-;-)
Make rs587781231(-;AA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25339188
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781231
dbSNP (classic)rs587781231
ClinGenrs587781231
ebirs587781231
HLIrs587781231
Exacrs587781231
Gnomadrs587781231
Varsomers587781231
LitVarrs587781231
Maprs587781231
PheGenIrs587781231
Biobankrs587781231
1000 genomesrs587781231
hgdprs587781231
ensemblrs587781231
geneviewrs587781231
scholarrs587781231
googlers587781231
pharmgkbrs587781231
gwascentralrs587781231
openSNPrs587781231
23andMers587781231
SNPshotrs587781231
SNPdbers587781231
MSV3drs587781231
GWAS Ctlgrs587781231
Max Magnitude0
ClinVar
Risk rs587781231(-;-)
Alt rs587781231(-;-)
Reference Rs587781231(AA;AA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584335_25584336delTT
CLNSRC
CLNACC RCV000144307.1,