Variant: rs878853275 

    present in Gene: GDI1;ATP6AP1
    present in Chromosome: X
    Position on Chromosome: 154435762
    Alleles of this Variant: G/A;T

rs878853275 in GDI1;ATP6AP1 gene and IMMUNODEFICIENCY 47 PMID 27231034 2016 ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.