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rs587781227

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587781227(-;-)
Make rs587781227(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25339218
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781227
ebirs587781227
HLIrs587781227
Exacrs587781227
Varsomers587781227
Maprs587781227
PheGenIrs587781227
hapmaprs587781227
1000 genomesrs587781227
hgdprs587781227
ensemblrs587781227
gopubmedrs587781227
geneviewrs587781227
scholarrs587781227
googlers587781227
pharmgkbrs587781227
gwascentralrs587781227
openSNPrs587781227
23andMers587781227
23andMe allrs587781227
SNP Nexus

SNPshotrs587781227
SNPdbers587781227
MSV3drs587781227
GWAS Ctlgrs587781227
Max Magnitude0
ClinVar
Risk rs587781227(;)
Alt rs587781227(;)
Reference rs587781227(T;T)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584365delA
CLNSRC
CLNACC RCV000144302.1,