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rs587781208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781208(A;A)
Make rs587781208(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25356860
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781208
dbSNP (classic)rs587781208
ClinGenrs587781208
ebirs587781208
HLIrs587781208
Exacrs587781208
Gnomadrs587781208
Varsomers587781208
LitVarrs587781208
Maprs587781208
PheGenIrs587781208
Biobankrs587781208
1000 genomesrs587781208
hgdprs587781208
ensemblrs587781208
geneviewrs587781208
scholarrs587781208
googlers587781208
pharmgkbrs587781208
gwascentralrs587781208
openSNPrs587781208
23andMers587781208
SNPshotrs587781208
SNPdbers587781208
MSV3drs587781208
GWAS Ctlgrs587781208
Max Magnitude0
ClinVar
Risk rs587781208(A;A)
Alt rs587781208(A;A)
Reference Rs587781208(G;G)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25602007C>T
CLNSRC
CLNACC RCV000144282.2,