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rs587781215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587781215(-;TATT)
Make rs587781215(TATT;TATT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354645
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781215
dbSNP (classic)rs587781215
ClinGenrs587781215
ebirs587781215
HLIrs587781215
Exacrs587781215
Gnomadrs587781215
Varsomers587781215
LitVarrs587781215
Maprs587781215
PheGenIrs587781215
Biobankrs587781215
1000 genomesrs587781215
hgdprs587781215
ensemblrs587781215
geneviewrs587781215
scholarrs587781215
googlers587781215
pharmgkbrs587781215
gwascentralrs587781215
openSNPrs587781215
23andMers587781215
SNPshotrs587781215
SNPdbers587781215
MSV3drs587781215
GWAS Ctlgrs587781215
Max Magnitude0
ClinVar
Risk rs587781215(TATT;TATT)
Alt rs587781215(TATT;TATT)
Reference Rs587781215(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599792_25599793insAATA
CLNSRC
CLNACC RCV000144289.1,