Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77563738
rs77563738
T 0.710 CausalMutation CLINVAR This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation inCECR1 Disease modifiers, including epigenetic and environmental factors, thus seem important in determining the phenotype. 26867732

2016

dbSNP: rs77563738
rs77563738
0.710 GeneticVariation BEFREE This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation inCECR1 Disease modifiers, including epigenetic and environmental factors, thus seem important in determining the phenotype. 26867732

2016

dbSNP: rs77563738
rs77563738
T 0.710 CausalMutation CLINVAR Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency. 25888558

2015

dbSNP: rs77563738
rs77563738
T 0.710 CausalMutation CLINVAR Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285

2014

dbSNP: rs77563738
rs77563738
T 0.710 CausalMutation CLINVAR Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014