Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908722
rs121908722
ADA
T 0.800 GeneticVariation CLINVAR Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome. 25875700

2015
dbSNP: rs121908722
rs121908722
ADA
T 0.800 GeneticVariation CLINVAR Severe combined immunodeficiency due to adenosine deaminase deficiency. 22764473

2012
dbSNP: rs121908722
rs121908722
ADA
T 0.800 GeneticVariation CLINVAR Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient. 18952502

2009
dbSNP: rs121908722
rs121908722
ADA
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: rs121908722
rs121908722
ADA
T 0.800 GeneticVariation CLINVAR Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. 9758612

1998
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity. 9361033

1997
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. 7599635

1995
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID). 8299233

1994
dbSNP: rs121908722
rs121908722
ADA
T 0.800 GeneticVariation CLINVAR Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 8227344

1993
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 8227344

1993
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions. 1284479

1992
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Hot spot mutations in adenosine deaminase deficiency. 2166947

1990
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency. 2783588

1989
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts. 3182793

1988
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency. 3839802

1985
dbSNP: rs121908722
rs121908722
ADA
0.800 GeneticVariation UNIPROT Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines. 6208479

1984