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rs587781222

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587781222(-;-)
Make rs587781222(-;AACTA)
Make rs587781222(AACTA;AACTA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354395
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781222
ebirs587781222
HLIrs587781222
Exacrs587781222
Varsomers587781222
Maprs587781222
PheGenIrs587781222
hapmaprs587781222
1000 genomesrs587781222
hgdprs587781222
ensemblrs587781222
gopubmedrs587781222
geneviewrs587781222
scholarrs587781222
googlers587781222
pharmgkbrs587781222
gwascentralrs587781222
openSNPrs587781222
23andMers587781222
23andMe allrs587781222
SNP Nexus

SNPshotrs587781222
SNPdbers587781222
MSV3drs587781222
GWAS Ctlgrs587781222
Max Magnitude0
ClinVar
Risk rs587781222(AACTA;AACTA)
Alt rs587781222(AACTA;AACTA)
Reference rs587781222(;)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599543_25599547dupTAGTT
CLNSRC
CLNACC RCV000144296.1,