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rs587781232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTAAAACAAA;GTAAAACAAA) 0 common in clinvar
Make rs587781232(-;-)
Make rs587781232(-;GTAAAACAAA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25339131
is asnp
is mentioned by
dbSNPrs587781232
dbSNP (classic)rs587781232
ClinGenrs587781232
ebirs587781232
HLIrs587781232
Exacrs587781232
Gnomadrs587781232
Varsomers587781232
LitVarrs587781232
Maprs587781232
PheGenIrs587781232
Biobankrs587781232
1000 genomesrs587781232
hgdprs587781232
ensemblrs587781232
geneviewrs587781232
scholarrs587781232
googlers587781232
pharmgkbrs587781232
gwascentralrs587781232
openSNPrs587781232
23andMers587781232
SNPshotrs587781232
SNPdbers587781232
MSV3drs587781232
GWAS Ctlgrs587781232
Max Magnitude0
ClinVar
Risk rs587781232(-;-)
Alt rs587781232(-;-)
Reference Rs587781232(GTAAAACAAA;GTAAAACAAA)
Significance Pathogenic
Disease Angelman syndrome not specified
Variation info
Gene
CLNDBN Angelman syndrome not specified
Reversed 1
HGVS NC_000015.9:g.25584278_25584287delTTTGTTTTAC
CLNSRC
CLNACC RCV000144308.1, RCV000192645.1,