Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200930463
rs200930463
ADA2
0.800 GeneticVariation UNIPROT Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014
dbSNP: rs200930463
rs200930463
ADA2
0.800 GeneticVariation UNIPROT Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285

2014
dbSNP: rs587777240
rs587777240
ADA2
0.800 GeneticVariation UNIPROT Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014
dbSNP: rs587777240
rs587777240
ADA2
0.800 GeneticVariation UNIPROT Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285

2014
dbSNP: rs587777241
rs587777241
ADA2
0.800 GeneticVariation UNIPROT Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285

2014
dbSNP: rs587777241
rs587777241
ADA2
C 0.800 CausalMutation CLINVAR Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014
dbSNP: rs587777241
rs587777241
ADA2
0.800 GeneticVariation UNIPROT Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014
dbSNP: rs587777242
rs587777242
ADA2
0.800 GeneticVariation UNIPROT Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014
dbSNP: rs587777242
rs587777242
ADA2
0.800 GeneticVariation UNIPROT Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285

2014
dbSNP: rs200930463
rs200930463
ADA2
G 0.800 CausalMutation CLINVAR

dbSNP: rs200930463
rs200930463
ADA2
A 0.800 CausalMutation CLINVAR

dbSNP: rs587777240
rs587777240
ADA2
T 0.800 CausalMutation CLINVAR

dbSNP: rs587777242
rs587777242
ADA2
G 0.800 CausalMutation CLINVAR

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

2015
dbSNP: rs77563738
rs77563738
ADA2
T 0.710 CausalMutation CLINVAR Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. 24552285

2014
dbSNP: rs77563738
rs77563738
ADA2
T 0.710 CausalMutation CLINVAR Early-onset stroke and vasculopathy associated with mutations in ADA2. 24552284

2014
dbSNP: rs202134424
rs202134424
ADA2
T 0.700 CausalMutation CLINVAR Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. 29951947

2018
dbSNP: rs139750129
rs139750129
ADA2
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: rs202134424
rs202134424
ADA2
T 0.700 CausalMutation CLINVAR Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders. 28983775

2017
dbSNP: rs376785840
rs376785840
ADA2
C 0.700 CausalMutation CLINVAR Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders. 28983775

2017
dbSNP: rs775440641
rs775440641
ADA2
C 0.700 CausalMutation CLINVAR ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. 28522451

2017
dbSNP: rs148936893
rs148936893
ADA2
A 0.700 CausalMutation CLINVAR Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases. 27059682

2016
dbSNP: rs376785840
rs376785840
ADA2
C 0.700 CausalMutation CLINVAR ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. 27252897

2016