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rs76794400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs76794400(C;C)
Make rs76794400(C;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position25339138
GeneUBE3A
is asnp
is mentioned by
dbSNPrs76794400
ebirs76794400
HLIrs76794400
Exacrs76794400
Varsomers76794400
Maprs76794400
PheGenIrs76794400
hapmaprs76794400
1000 genomesrs76794400
hgdprs76794400
ensemblrs76794400
gopubmedrs76794400
geneviewrs76794400
scholarrs76794400
googlers76794400
pharmgkbrs76794400
gwascentralrs76794400
openSNPrs76794400
23andMers76794400
23andMe allrs76794400
SNP Nexus

SNPshotrs76794400
SNPdbers76794400
MSV3drs76794400
GWAS Ctlgrs76794400
Max Magnitude0
ClinVar
Risk rs76794400(A,C;A,C)
Alt rs76794400(A,C;A,C)
Reference rs76794400(T;T)
Significance Pathogenic
Disease Angelman syndrome not specified
Variation info
Gene UBE3A
CLNDBN Angelman syndrome not specified
Reversed 0
HGVS NC_000015.9:g.25584285T>A; NC_000015.9:g.25584285T>C
CLNSRC ClinVar Emory University GeneDx University of Chicago
CLNACC RCV000144554.1, RCV000082348.6,