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rs863224940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACTT;ACTT) 0 common in clinvar
Make rs863224940(-;-)
Make rs863224940(-;ACTT)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position25339218
GeneUBE3A
is asnp
is mentioned by
dbSNPrs863224940
dbSNP (classic)rs863224940
ClinGenrs863224940
ebirs863224940
HLIrs863224940
Exacrs863224940
Gnomadrs863224940
Varsomers863224940
LitVarrs863224940
Maprs863224940
PheGenIrs863224940
Biobankrs863224940
1000 genomesrs863224940
hgdprs863224940
ensemblrs863224940
geneviewrs863224940
scholarrs863224940
googlers863224940
pharmgkbrs863224940
gwascentralrs863224940
openSNPrs863224940
23andMers863224940
SNPshotrs863224940
SNPdbers863224940
MSV3drs863224940
GWAS Ctlgrs863224940
Max Magnitude0
ClinVar
Risk rs863224940(-;-)
Alt rs863224940(-;-)
Reference Rs863224940(ACTT;ACTT)
Significance Probable-Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584365_25584368delAAGT
CLNSRC
CLNACC RCV000196394.1,