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rs587782919

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587782919(A;C)
Make rs587782919(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25356827
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587782919
ebirs587782919
HLIrs587782919
Exacrs587782919
Varsomers587782919
Maprs587782919
PheGenIrs587782919
hapmaprs587782919
1000 genomesrs587782919
hgdprs587782919
ensemblrs587782919
gopubmedrs587782919
geneviewrs587782919
scholarrs587782919
googlers587782919
pharmgkbrs587782919
gwascentralrs587782919
openSNPrs587782919
23andMers587782919
23andMe allrs587782919
SNP Nexus

SNPshotrs587782919
SNPdbers587782919
MSV3drs587782919
GWAS Ctlgrs587782919
Max Magnitude0
ClinVar
Risk rs587782919(C,G;C,G)
Alt rs587782919(C,G;C,G)
Reference rs587782919(A;A)
Significance Probable-Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601974T>C; NC_000015.9:g.25601974T>G
CLNSRC
CLNACC RCV000147873.1, RCV000144344.1,