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rs587780566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587780566(-;AAAG)
Make rs587780566(AAAG;AAAG)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25375563
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587780566
dbSNP (classic)rs587780566
ClinGenrs587780566
ebirs587780566
HLIrs587780566
Exacrs587780566
Gnomadrs587780566
Varsomers587780566
LitVarrs587780566
Maprs587780566
PheGenIrs587780566
Biobankrs587780566
1000 genomesrs587780566
hgdprs587780566
ensemblrs587780566
geneviewrs587780566
scholarrs587780566
googlers587780566
pharmgkbrs587780566
gwascentralrs587780566
openSNPrs587780566
23andMers587780566
SNPshotrs587780566
SNPdbers587780566
MSV3drs587780566
GWAS Ctlgrs587780566
Max Magnitude0
ClinVar
Risk rs587780566(AAAG;AAAG)
Alt rs587780566(AAAG;AAAG)
Reference Rs587780566(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25620711_25620714dupCTTT
CLNSRC
CLNACC RCV000144539.1,