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rs587784454

From SNPedia

Orientationplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs587784454(-;-)
Make rs587784454(-;AT)
Make rs587784454(AT;AT)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position127666256
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs587784454
ebirs587784454
HLIrs587784454
Exacrs587784454
Varsomers587784454
Maprs587784454
PheGenIrs587784454
hapmaprs587784454
1000 genomesrs587784454
hgdprs587784454
ensemblrs587784454
gopubmedrs587784454
geneviewrs587784454
scholarrs587784454
googlers587784454
pharmgkbrs587784454
gwascentralrs587784454
openSNPrs587784454
23andMers587784454
23andMe allrs587784454
SNP Nexus

SNPshotrs587784454
SNPdbers587784454
MSV3drs587784454
GWAS Ctlgrs587784454
Max Magnitude0
ClinVar
Risk rs587784454(;)
Alt rs587784454(;)
Reference rs587784454(TA;TA)
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.130428535_130428536delAT
CLNSRC
CLNACC RCV000147706.1,