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rs587781218

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781218(-;-)
Make rs587781218(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354562
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781218
ebirs587781218
HLIrs587781218
Exacrs587781218
Varsomers587781218
Maprs587781218
PheGenIrs587781218
hapmaprs587781218
1000 genomesrs587781218
hgdprs587781218
ensemblrs587781218
gopubmedrs587781218
geneviewrs587781218
scholarrs587781218
googlers587781218
pharmgkbrs587781218
gwascentralrs587781218
openSNPrs587781218
23andMers587781218
23andMe allrs587781218
SNP Nexus

SNPshotrs587781218
SNPdbers587781218
MSV3drs587781218
GWAS Ctlgrs587781218
Max Magnitude0
ClinVar
Risk rs587781218(;)
Alt rs587781218(;)
Reference rs587781218(C;C)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599709delG
CLNSRC
CLNACC RCV000144292.1,