STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Epileptic Encephalopathy, Early Infantile, 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1316686443
rs1316686443
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		G 0.700 GeneticVariation CLINVAR