Variant: rs121909118 

    present in Gene: SCARB2
    present in Chromosome: 4
    Position on Chromosome: 76174276
    Alleles of this Variant: G/A

rs121909118 in SCARB2 gene and Action Myoclonus-Renal Failure Syndrome PMID 18308289 2008 Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.

PMID 21670406 2011 Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.