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rs587784453

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784453(A;G)
Make rs587784453(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position127666236
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs587784453
ebirs587784453
HLIrs587784453
Exacrs587784453
Varsomers587784453
Maprs587784453
PheGenIrs587784453
hapmaprs587784453
1000 genomesrs587784453
hgdprs587784453
ensemblrs587784453
gopubmedrs587784453
geneviewrs587784453
scholarrs587784453
googlers587784453
pharmgkbrs587784453
gwascentralrs587784453
openSNPrs587784453
23andMers587784453
23andMe allrs587784453
SNP Nexus

SNPshotrs587784453
SNPdbers587784453
MSV3drs587784453
GWAS Ctlgrs587784453
Max Magnitude0
ClinVar
Risk rs587784453(G;G)
Alt rs587784453(G;G)
Reference rs587784453(A;A)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 4
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy 4
Reversed 0
HGVS NC_000009.11:g.130428515A>G
CLNSRC
CLNACC RCV000147705.1,