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rs587780582

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587780582(C;C)
Make rs587780582(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371404
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587780582
ebirs587780582
HLIrs587780582
Exacrs587780582
Varsomers587780582
Maprs587780582
PheGenIrs587780582
hapmaprs587780582
1000 genomesrs587780582
hgdprs587780582
ensemblrs587780582
gopubmedrs587780582
geneviewrs587780582
scholarrs587780582
googlers587780582
pharmgkbrs587780582
gwascentralrs587780582
openSNPrs587780582
23andMers587780582
23andMe allrs587780582
SNP Nexus

SNPshotrs587780582
SNPdbers587780582
MSV3drs587780582
GWAS Ctlgrs587780582
Max Magnitude0
ClinVar
Risk rs587780582(A,C;A,C)
Alt rs587780582(A,C;A,C)
Reference rs587780582(T;T)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616551A>G; NC_000015.9:g.25616551A>T
CLNSRC
CLNACC RCV000144556.1, RCV000144318.1,