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rs587781237

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587781237(G;G)
Make rs587781237(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354679
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781237
dbSNP (classic)rs587781237
ClinGenrs587781237
ebirs587781237
HLIrs587781237
Exacrs587781237
Gnomadrs587781237
Varsomers587781237
LitVarrs587781237
Maprs587781237
PheGenIrs587781237
Biobankrs587781237
1000 genomesrs587781237
hgdprs587781237
ensemblrs587781237
geneviewrs587781237
scholarrs587781237
googlers587781237
pharmgkbrs587781237
gwascentralrs587781237
openSNPrs587781237
23andMers587781237
SNPshotrs587781237
SNPdbers587781237
MSV3drs587781237
GWAS Ctlgrs587781237
Max Magnitude0
ClinVar
Risk rs587781237(G;G)
Alt rs587781237(G;G)
Reference Rs587781237(T;T)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599826A>C
CLNSRC
CLNACC RCV000144313.1,