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rs587780567

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs587780567(-;-)
Make rs587780567(-;TA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25375502
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587780567
dbSNP (classic)rs587780567
ClinGenrs587780567
ebirs587780567
HLIrs587780567
Exacrs587780567
Gnomadrs587780567
Varsomers587780567
LitVarrs587780567
Maprs587780567
PheGenIrs587780567
Biobankrs587780567
1000 genomesrs587780567
hgdprs587780567
ensemblrs587780567
geneviewrs587780567
scholarrs587780567
googlers587780567
pharmgkbrs587780567
gwascentralrs587780567
openSNPrs587780567
23andMers587780567
SNPshotrs587780567
SNPdbers587780567
MSV3drs587780567
GWAS Ctlgrs587780567
Max Magnitude0
ClinVar
Risk rs587780567(-;-)
Alt rs587780567(-;-)
Reference Rs587780567(TA;TA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25620649_25620650delTA
CLNSRC
CLNACC RCV000144540.1,