Variant: rs139750129 

    present in Gene: ADA2
    present in Chromosome: 22
    Position on Chromosome: 17188449
    Alleles of this Variant: T/C

rs139750129 in ADA2 gene and POLYARTERITIS NODOSA, CHILDHOOD-ONSET PMID 24552284 2014 Early-onset stroke and vasculopathy associated with mutations in ADA2.

PMID 24552285 2014 Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

PMID 28493328 2017 Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.