Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554778417
rs1554778417
STXBP1
G 0.700 GeneticVariation CLINVAR Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. 26384463

2016
dbSNP: rs1554778417
rs1554778417
STXBP1
G 0.700 GeneticVariation CLINVAR STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364

2010