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rs587781243

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781243(C;C)
Make rs587781243(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25370684
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781243
ebirs587781243
HLIrs587781243
Exacrs587781243
Varsomers587781243
Maprs587781243
PheGenIrs587781243
hapmaprs587781243
1000 genomesrs587781243
hgdprs587781243
ensemblrs587781243
gopubmedrs587781243
geneviewrs587781243
scholarrs587781243
googlers587781243
pharmgkbrs587781243
gwascentralrs587781243
openSNPrs587781243
23andMers587781243
23andMe allrs587781243
SNP Nexus

SNPshotrs587781243
SNPdbers587781243
MSV3drs587781243
GWAS Ctlgrs587781243
Max Magnitude0
ClinVar
Risk rs587781243(C;C)
Alt rs587781243(C;C)
Reference rs587781243(G;G)
Significance Probable-Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25615831C>G
CLNSRC
CLNACC RCV000144320.1,