Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554777919
rs1554777919
STXBP1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 21762454

2011
dbSNP: rs1554777919
rs1554777919
STXBP1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 CausalMutation CLINVAR De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812

2008