Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139750129
rs139750129
C 0.700 CausalMutation CLINVAR Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. 28493328

2017

dbSNP: rs139750129
rs139750129
C 0.700 CausalMutation CLINVAR Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285

2014

dbSNP: rs139750129
rs139750129
C 0.700 CausalMutation CLINVAR Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014