Gene: ADA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908721
rs121908721
ADA ; PKIG
0.710 GeneticVariation BEFREE In addition, our computational analysis showed that the H15D, G140E, G216R, and S291L mutations identified as being associated with severe combined immunodeficiency affect protein structure. 31781678

2019
dbSNP: rs121908721
rs121908721
ADA ; PKIG
C 0.710 GeneticVariation CLINVAR

dbSNP: rs121908735
rs121908735
ADA
A 0.700 CausalMutation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240

2015
dbSNP: rs121908735
rs121908735
ADA
A 0.700 CausalMutation CLINVAR Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. 22447032

2012
dbSNP: rs1555844617
rs1555844617
ADA
CT 0.700 GeneticVariation CLINVAR Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 21664875

2011
dbSNP: rs751635016
rs751635016
ADA ; PKIG
T 0.700 CausalMutation CLINVAR Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 19179314

2009
dbSNP: rs121908735
rs121908735
ADA
A 0.700 CausalMutation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998
dbSNP: rs121908723
rs121908723
ADA ; PKIG
0.010 GeneticVariation BEFREE In addition, our computational analysis showed that the H15D, G140E, G216R, and S291L mutations identified as being associated with severe combined immunodeficiency affect protein structure. 31781678

2019
dbSNP: rs1359688726
rs1359688726
ADA
0.010 GeneticVariation BEFREE Here we report a novel missense mutation (c. 307C > T/p.H103Y) in the RAG1 gene in a patient with leaky SCID. 28552805

2017
dbSNP: rs121908726
rs121908726
ADA
0.010 GeneticVariation BEFREE Three new missense mutations (H15D, A83D, and A179D) and a new splicing defect (573 + IG-->A) in the 5' splice site of intron 5 were among six mutant adenosine deaminase (ADA) alleles found in three unrelated patients with severe combined immunodeficiency disease, the most common phenotype associated with ADA deficiency. 7599635

1995
dbSNP: rs121908727
rs121908727
ADA
0.010 GeneticVariation BEFREE Three new missense mutations (H15D, A83D, and A179D) and a new splicing defect (573 + IG-->A) in the 5' splice site of intron 5 were among six mutant adenosine deaminase (ADA) alleles found in three unrelated patients with severe combined immunodeficiency disease, the most common phenotype associated with ADA deficiency. 7599635

1995
dbSNP: rs780014431
rs780014431
ADA
0.010 GeneticVariation BEFREE A C-->T transition of the same CpG produced a nonsense mutation, R142X, in two homozygous Canadian Mennonite infants with SCID. 8589684

1995