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rs587781202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781202(-;-)
Make rs587781202(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25370727
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781202
dbSNP (classic)rs587781202
ClinGenrs587781202
ebirs587781202
HLIrs587781202
Exacrs587781202
Gnomadrs587781202
Varsomers587781202
LitVarrs587781202
Maprs587781202
PheGenIrs587781202
Biobankrs587781202
1000 genomesrs587781202
hgdprs587781202
ensemblrs587781202
geneviewrs587781202
scholarrs587781202
googlers587781202
pharmgkbrs587781202
gwascentralrs587781202
openSNPrs587781202
23andMers587781202
SNPshotrs587781202
SNPdbers587781202
MSV3drs587781202
GWAS Ctlgrs587781202
Max Magnitude0
ClinVar
Risk rs587781202(-;-)
Alt rs587781202(-;-)
Reference Rs587781202(G;G)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25615874delC
CLNSRC
CLNACC RCV000144276.1,