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rs587781193

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587781193(-;-)
Make rs587781193(-;A)
Make rs587781193(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371046
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781193
ebirs587781193
HLIrs587781193
Exacrs587781193
Varsomers587781193
Maprs587781193
PheGenIrs587781193
hapmaprs587781193
1000 genomesrs587781193
hgdprs587781193
ensemblrs587781193
gopubmedrs587781193
geneviewrs587781193
scholarrs587781193
googlers587781193
pharmgkbrs587781193
gwascentralrs587781193
openSNPrs587781193
23andMers587781193
23andMe allrs587781193
SNP Nexus

SNPshotrs587781193
SNPdbers587781193
MSV3drs587781193
GWAS Ctlgrs587781193
Max Magnitude0
ClinVar
Risk rs587781193(A;A)
Alt rs587781193(A;A)
Reference rs587781193(;)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616194dupT
CLNSRC
CLNACC RCV000144267.1,