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rs886044141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AA) 8 Early infantile epileptic encephalopathy, type 4
(AA;AA) 0 common in clinvar


Make rs886044141(-;-)
Chromosome9
Position127661176
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs886044141
dbSNP (classic)rs886044141
ClinGenrs886044141
ebirs886044141
HLIrs886044141
Exacrs886044141
Gnomadrs886044141
Varsomers886044141
LitVarrs886044141
Maprs886044141
PheGenIrs886044141
Biobankrs886044141
1000 genomesrs886044141
hgdprs886044141
ensemblrs886044141
geneviewrs886044141
scholarrs886044141
googlers886044141
pharmgkbrs886044141
gwascentralrs886044141
openSNPrs886044141
23andMers886044141
SNPshotrs886044141
SNPdbers886044141
MSV3drs886044141
GWAS Ctlgrs886044141
Max Magnitude8
ClinVar
Risk rs886044141(-;-)
Alt rs886044141(-;-)
Reference Rs886044141(AA;AA)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 4
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy 4
Reversed 0
HGVS NC_000009.11:g.130423455_130423456delAA
CLNSRC
CLNACC RCV000352406.1,