STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Infantile Spasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564351388
rs1564351388
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C3887898
Disease:
Infantile Spasm 		CT 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016