Variant: rs1057519591 

    present in Gene: CTSD
    present in Chromosome: 11
    Position on Chromosome: 1757340
    Alleles of this Variant: AGA/-

rs1057519591 in CTSD gene and NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY PMID 16685649 2006 Cathepsin D deficiency is associated with a human neurodegenerative disorder.