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rs587781235

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common genotype
(G;G) 0 common in clinvar
Make rs587781235(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25356840
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781235
dbSNP (classic)rs587781235
ClinGenrs587781235
ebirs587781235
HLIrs587781235
Exacrs587781235
Gnomadrs587781235
Varsomers587781235
LitVarrs587781235
Maprs587781235
PheGenIrs587781235
Biobankrs587781235
1000 genomesrs587781235
hgdprs587781235
ensemblrs587781235
geneviewrs587781235
scholarrs587781235
googlers587781235
pharmgkbrs587781235
gwascentralrs587781235
openSNPrs587781235
23andMers587781235
SNPshotrs587781235
SNPdbers587781235
MSV3drs587781235
GWAS Ctlgrs587781235
Max Magnitude0
ClinVar
Risk Rs587781235(C;C)
Alt Rs587781235(C;C)
Reference Rs587781235(G;G)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601987C>G
CLNSRC
CLNACC RCV000144311.1,