Variant: rs587784453 

    present in Gene: STXBP1
    present in Chromosome: 9
    Position on Chromosome: 127666236
    Alleles of this Variant: A/G

rs587784453 in STXBP1 gene and X-linked infantile spasms PMID 25693842 2016 Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

PMID 26514728 2015 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.