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rs587781242

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587781242(C;C)
Make rs587781242(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25370810
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781242
ebirs587781242
HLIrs587781242
Exacrs587781242
Varsomers587781242
Maprs587781242
PheGenIrs587781242
hapmaprs587781242
1000 genomesrs587781242
hgdprs587781242
ensemblrs587781242
gopubmedrs587781242
geneviewrs587781242
scholarrs587781242
googlers587781242
pharmgkbrs587781242
gwascentralrs587781242
openSNPrs587781242
23andMers587781242
23andMe allrs587781242
SNP Nexus

SNPshotrs587781242
SNPdbers587781242
MSV3drs587781242
GWAS Ctlgrs587781242
Max Magnitude0
ClinVar
Risk rs587781242(C;C)
Alt rs587781242(C;C)
Reference rs587781242(T;T)
Significance Probable-Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25615957A>G
CLNSRC
CLNACC RCV000144319.1,