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rs587781239

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781239(C;T)
Make rs587781239(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25339216
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781239
ebirs587781239
HLIrs587781239
Exacrs587781239
Varsomers587781239
Maprs587781239
PheGenIrs587781239
hapmaprs587781239
1000 genomesrs587781239
hgdprs587781239
ensemblrs587781239
gopubmedrs587781239
geneviewrs587781239
scholarrs587781239
googlers587781239
pharmgkbrs587781239
gwascentralrs587781239
openSNPrs587781239
23andMers587781239
23andMe allrs587781239
SNP Nexus

SNPshotrs587781239
SNPdbers587781239
MSV3drs587781239
GWAS Ctlgrs587781239
Max Magnitude0
ClinVar
Risk rs587781239(T;T)
Alt rs587781239(T;T)
Reference rs587781239(C;C)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584363G>A
CLNSRC
CLNACC RCV000144315.1,