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rs111033595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033595(A;A)
Make rs111033595(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position25340219
GeneUBE3A
is asnp
is mentioned by
dbSNPrs111033595
ebirs111033595
HLIrs111033595
Exacrs111033595
Varsomers111033595
Maprs111033595
PheGenIrs111033595
hapmaprs111033595
1000 genomesrs111033595
hgdprs111033595
ensemblrs111033595
gopubmedrs111033595
geneviewrs111033595
scholarrs111033595
googlers111033595
pharmgkbrs111033595
gwascentralrs111033595
openSNPrs111033595
23andMers111033595
23andMe allrs111033595
SNP Nexus

SNPshotrs111033595
SNPdbers111033595
MSV3drs111033595
GWAS Ctlgrs111033595
Max Magnitude0
OMIM601623
Desc
Variant0005
Relatedalso
ClinVar
Risk rs111033595(A;A)
Alt rs111033595(A;A)
Reference rs111033595(G;G)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25585366C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008431.2,