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rs587780580

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587780580(A;C)
Make rs587780580(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354685
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587780580
dbSNP (classic)rs587780580
ClinGenrs587780580
ebirs587780580
HLIrs587780580
Exacrs587780580
Gnomadrs587780580
Varsomers587780580
LitVarrs587780580
Maprs587780580
PheGenIrs587780580
Biobankrs587780580
1000 genomesrs587780580
hgdprs587780580
ensemblrs587780580
geneviewrs587780580
scholarrs587780580
googlers587780580
pharmgkbrs587780580
gwascentralrs587780580
openSNPrs587780580
23andMers587780580
SNPshotrs587780580
SNPdbers587780580
MSV3drs587780580
GWAS Ctlgrs587780580
Max Magnitude0
ClinVar
Risk rs587780580(C;C)
Alt rs587780580(C;C)
Reference Rs587780580(A;A)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599832T>G
CLNSRC
CLNACC RCV000144553.1,