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rs587781228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781228(C;G)
Make rs587781228(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25339207
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781228
dbSNP (classic)rs587781228
ClinGenrs587781228
ebirs587781228
HLIrs587781228
Exacrs587781228
Gnomadrs587781228
Varsomers587781228
LitVarrs587781228
Maprs587781228
PheGenIrs587781228
Biobankrs587781228
1000 genomesrs587781228
hgdprs587781228
ensemblrs587781228
geneviewrs587781228
scholarrs587781228
googlers587781228
pharmgkbrs587781228
gwascentralrs587781228
openSNPrs587781228
23andMers587781228
SNPshotrs587781228
SNPdbers587781228
MSV3drs587781228
GWAS Ctlgrs587781228
Max Magnitude0
ClinVar
Risk rs587781228(G;G)
Alt rs587781228(G;G)
Reference Rs587781228(C;C)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584354G>C
CLNSRC
CLNACC RCV000144304.1,