Have questions? Visit https://www.reddit.com/r/SNPedia

rs111033597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033597(C;C)
Make rs111033597(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position25371725
GeneUBE3A
is asnp
is mentioned by
dbSNPrs111033597
ebirs111033597
HLIrs111033597
Exacrs111033597
Varsomers111033597
Maprs111033597
PheGenIrs111033597
hapmaprs111033597
1000 genomesrs111033597
hgdprs111033597
ensemblrs111033597
gopubmedrs111033597
geneviewrs111033597
scholarrs111033597
googlers111033597
pharmgkbrs111033597
gwascentralrs111033597
openSNPrs111033597
23andMers111033597
23andMe allrs111033597
SNP Nexus

SNPshotrs111033597
SNPdbers111033597
MSV3drs111033597
GWAS Ctlgrs111033597
Max Magnitude0
OMIM601623
Desc
Variant0007
Relatedalso
ClinVar
Risk rs111033597(C;C)
Alt rs111033597(C;C)
Reference rs111033597(T;T)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616872A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008433.3,