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rs587781203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs587781203(-;-)
Make rs587781203(-;TC)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25370608
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781203
dbSNP (classic)rs587781203
ClinGenrs587781203
ebirs587781203
HLIrs587781203
Exacrs587781203
Gnomadrs587781203
Varsomers587781203
LitVarrs587781203
Maprs587781203
PheGenIrs587781203
Biobankrs587781203
1000 genomesrs587781203
hgdprs587781203
ensemblrs587781203
geneviewrs587781203
scholarrs587781203
googlers587781203
pharmgkbrs587781203
gwascentralrs587781203
openSNPrs587781203
23andMers587781203
SNPshotrs587781203
SNPdbers587781203
MSV3drs587781203
GWAS Ctlgrs587781203
Max Magnitude0
ClinVar
Risk rs587781203(-;-)
Alt rs587781203(-;-)
Reference Rs587781203(TC;TC)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25615755_25615756delGA
CLNSRC
CLNACC RCV000144277.1,