Variant: rs121918110 

    present in Gene: PSAP
    present in Chromosome: 10
    Position on Chromosome: 71819860
    Alleles of this Variant: A/G

rs121918110 in PSAP gene and GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY PMID 17919309 2007 Non-neuronopathic Gaucher disease due to saposin C deficiency.

PMID 2060627 1991 Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.