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rs587783101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783101(C;T)
Make rs587783101(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371732
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587783101
dbSNP (classic)rs587783101
ClinGenrs587783101
ebirs587783101
HLIrs587783101
Exacrs587783101
Gnomadrs587783101
Varsomers587783101
LitVarrs587783101
Maprs587783101
PheGenIrs587783101
Biobankrs587783101
1000 genomesrs587783101
hgdprs587783101
ensemblrs587783101
geneviewrs587783101
scholarrs587783101
googlers587783101
pharmgkbrs587783101
gwascentralrs587783101
openSNPrs587783101
23andMers587783101
SNPshotrs587783101
SNPdbers587783101
MSV3drs587783101
GWAS Ctlgrs587783101
Max Magnitude0
ClinVar
Risk rs587783101(T;T)
Alt rs587783101(T;T)
Reference Rs587783101(C;C)
Significance Probable-Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616879G>A
CLNSRC
CLNACC RCV000233373.2,