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rs587781194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587781194(-;A)
Make rs587781194(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25371037
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781194
dbSNP (classic)rs587781194
ClinGenrs587781194
ebirs587781194
HLIrs587781194
Exacrs587781194
Gnomadrs587781194
Varsomers587781194
LitVarrs587781194
Maprs587781194
PheGenIrs587781194
Biobankrs587781194
1000 genomesrs587781194
hgdprs587781194
ensemblrs587781194
geneviewrs587781194
scholarrs587781194
googlers587781194
pharmgkbrs587781194
gwascentralrs587781194
openSNPrs587781194
23andMers587781194
SNPshotrs587781194
SNPdbers587781194
MSV3drs587781194
GWAS Ctlgrs587781194
Max Magnitude0
ClinVar
Risk rs587781194(A;A)
Alt rs587781194(A;A)
Reference Rs587781194(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616185dupT
CLNSRC
CLNACC RCV000144268.1,