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rs587781221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(D;I) If from Ancestry DNA, likely to be a miscall
(G;G) 0 common in clinvar
Make rs587781221(-;-)
Make rs587781221(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25354402
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781221
dbSNP (classic)rs587781221
ClinGenrs587781221
ebirs587781221
HLIrs587781221
Exacrs587781221
Gnomadrs587781221
Varsomers587781221
LitVarrs587781221
Maprs587781221
PheGenIrs587781221
Biobankrs587781221
1000 genomesrs587781221
hgdprs587781221
ensemblrs587781221
geneviewrs587781221
scholarrs587781221
googlers587781221
pharmgkbrs587781221
gwascentralrs587781221
openSNPrs587781221
23andMers587781221
SNPshotrs587781221
SNPdbers587781221
MSV3drs587781221
GWAS Ctlgrs587781221
Max Magnitude0
ClinVar
Risk rs587781221(-;-)
Alt rs587781221(-;-)
Reference Rs587781221(G;G)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599549delC
CLNSRC
CLNACC RCV000144295.1,