Gene: PKIG ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908723
rs121908723
ADA ; PKIG
T 0.800 CausalMutation CLINVAR Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency. 27129325

2016
dbSNP: rs121908715
rs121908715
ADA ; PKIG
A 0.800 GeneticVariation CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800

2015
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 CausalMutation CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800

2015
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 GeneticVariation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240

2015
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 CausalMutation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240

2015
dbSNP: rs121908721
rs121908721
ADA ; PKIG
A 0.800 GeneticVariation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240

2015
dbSNP: rs121908721
rs121908721
ADA ; PKIG
A 0.800 CausalMutation CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800

2015
dbSNP: rs121908721
rs121908721
ADA ; PKIG
A 0.800 CausalMutation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240

2015
dbSNP: rs121908721
rs121908721
ADA ; PKIG
A 0.800 GeneticVariation CLINVAR Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience. 26376800

2015
dbSNP: rs121908723
rs121908723
ADA ; PKIG
T 0.800 CausalMutation CLINVAR Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. 26255240

2015
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 GeneticVariation CLINVAR Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 19179314

2009
dbSNP: rs121908721
rs121908721
ADA ; PKIG
A 0.800 GeneticVariation CLINVAR Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 19179314

2009
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 GeneticVariation CLINVAR Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. 16276484

2005
dbSNP: rs121908715
rs121908715
ADA ; PKIG
A 0.800 CausalMutation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998
dbSNP: rs121908715
rs121908715
ADA ; PKIG
0.800 GeneticVariation UNIPROT Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. 10200056

1998
dbSNP: rs121908715
rs121908715
ADA ; PKIG
A 0.800 GeneticVariation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 CausalMutation CLINVAR Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. 9414266

1998
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 GeneticVariation CLINVAR Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency. 9414266

1998
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 GeneticVariation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998
dbSNP: rs121908716
rs121908716
ADA ; PKIG
0.800 GeneticVariation UNIPROT Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. 10200056

1998
dbSNP: rs121908716
rs121908716
ADA ; PKIG
T 0.800 CausalMutation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998
dbSNP: rs121908721
rs121908721
ADA ; PKIG
A 0.800 CausalMutation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998
dbSNP: rs121908721
rs121908721
ADA ; PKIG
0.800 GeneticVariation UNIPROT Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. 10200056

1998
dbSNP: rs121908721
rs121908721
ADA ; PKIG
A 0.800 GeneticVariation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998
dbSNP: rs121908723
rs121908723
ADA ; PKIG
T 0.800 CausalMutation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998