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rs111033594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033594(C;T)
Make rs111033594(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position25370865
GeneUBE3A
is asnp
is mentioned by
dbSNPrs111033594
ebirs111033594
HLIrs111033594
Exacrs111033594
Varsomers111033594
Maprs111033594
PheGenIrs111033594
hapmaprs111033594
1000 genomesrs111033594
hgdprs111033594
ensemblrs111033594
gopubmedrs111033594
geneviewrs111033594
scholarrs111033594
googlers111033594
pharmgkbrs111033594
gwascentralrs111033594
openSNPrs111033594
23andMers111033594
23andMe allrs111033594
SNP Nexus

SNPshotrs111033594
SNPdbers111033594
MSV3drs111033594
GWAS Ctlgrs111033594
Max Magnitude0
OMIM601623
Desc
Variant0004
Relatedalso
ClinVar
Risk rs111033594(T;T)
Alt rs111033594(T;T)
Reference rs111033594(C;C)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616012G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008430.3,