Variant: rs199845488 

    present in Gene: SP110;SP140
    present in Chromosome: 2
    Position on Chromosome: 230208012
    Alleles of this Variant: T/A;C

rs199845488 in SP110;SP140 gene and Hepatic venoocclusive disease with immunodeficiency PMID 16648851 2006 Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

PMID 22621957 2012 Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.