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rs587781229

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587781229(-;-)
Make rs587781229(-;GAAA)
Make rs587781229(GAAA;GAAA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25339195
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781229
ebirs587781229
HLIrs587781229
Exacrs587781229
Varsomers587781229
Maprs587781229
PheGenIrs587781229
hapmaprs587781229
1000 genomesrs587781229
hgdprs587781229
ensemblrs587781229
gopubmedrs587781229
geneviewrs587781229
scholarrs587781229
googlers587781229
pharmgkbrs587781229
gwascentralrs587781229
openSNPrs587781229
23andMers587781229
23andMe allrs587781229
SNP Nexus

SNPshotrs587781229
SNPdbers587781229
MSV3drs587781229
GWAS Ctlgrs587781229
Max Magnitude0
ClinVar
Risk rs587781229(GAAA;GAAA)
Alt rs587781229(GAAA;GAAA)
Reference rs587781229(;)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584343_25584346dupTTTC
CLNSRC
CLNACC RCV000144305.1,