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rs864309508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs864309508(-;-)
Make rs864309508(-;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position25356778
GeneUBE3A
is asnp
is mentioned by
dbSNPrs864309508
dbSNP (classic)rs864309508
ClinGenrs864309508
ebirs864309508
HLIrs864309508
Exacrs864309508
Gnomadrs864309508
Varsomers864309508
LitVarrs864309508
Maprs864309508
PheGenIrs864309508
Biobankrs864309508
1000 genomesrs864309508
hgdprs864309508
ensemblrs864309508
geneviewrs864309508
scholarrs864309508
googlers864309508
pharmgkbrs864309508
gwascentralrs864309508
openSNPrs864309508
23andMers864309508
SNPshotrs864309508
SNPdbers864309508
MSV3drs864309508
GWAS Ctlgrs864309508
Max Magnitude0
ClinVar
Risk rs864309508(-;-)
Alt rs864309508(-;-)
Reference Rs864309508(GT;GT)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601925_25601926delAC
CLNSRC
CLNACC RCV000202543.1,