Variant: rs200053119 

    present in Gene: SCARB2
    present in Chromosome: 4
    Position on Chromosome: 76181016
    Alleles of this Variant: G/A

rs200053119 in SCARB2 gene and Action Myoclonus-Renal Failure Syndrome PMID 23659519 2014 Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.

rs200053119 in SCARB2 gene and Myoclonic Epilepsies, Progressive PMID 23659519 2014 Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.