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rs587781213

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781213(C;T)
Make rs587781213(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25355984
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781213
dbSNP (classic)rs587781213
ClinGenrs587781213
ebirs587781213
HLIrs587781213
Exacrs587781213
Gnomadrs587781213
Varsomers587781213
LitVarrs587781213
Maprs587781213
PheGenIrs587781213
Biobankrs587781213
1000 genomesrs587781213
hgdprs587781213
ensemblrs587781213
geneviewrs587781213
scholarrs587781213
googlers587781213
pharmgkbrs587781213
gwascentralrs587781213
openSNPrs587781213
23andMers587781213
SNPshotrs587781213
SNPdbers587781213
MSV3drs587781213
GWAS Ctlgrs587781213
Max Magnitude0
ClinVar
Risk rs587781213(T;T)
Alt rs587781213(T;T)
Reference Rs587781213(C;C)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601131G>A
CLNSRC
CLNACC RCV000144287.1,