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rs587784527

From SNPedia

Orientationminus
Geno Mag Summary
(AAGA;AAGA) 0 common in clinvar
Make rs587784527(-;-)
Make rs587784527(-;AAGA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25339186
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587784527
ebirs587784527
HLIrs587784527
Exacrs587784527
Varsomers587784527
Maprs587784527
PheGenIrs587784527
hapmaprs587784527
1000 genomesrs587784527
hgdprs587784527
ensemblrs587784527
gopubmedrs587784527
geneviewrs587784527
scholarrs587784527
googlers587784527
pharmgkbrs587784527
gwascentralrs587784527
openSNPrs587784527
23andMers587784527
23andMe allrs587784527
SNP Nexus

SNPshotrs587784527
SNPdbers587784527
MSV3drs587784527
GWAS Ctlgrs587784527
Max Magnitude0
ClinVar
Risk rs587784527(;)
Alt rs587784527(;)
Reference rs587784527(AAGA;AAGA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584333_25584336delTCTT
CLNSRC
CLNACC RCV000147883.1,