Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995

2008
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. 10759707

2000
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676

2000
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929

2000
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT 156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox. 7964505

1994
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis. 8168815

1994
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). 1415254

1992
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. 1763037

1991
dbSNP: rs104894513
rs104894513
CYBA
0.800 GeneticVariation UNIPROT Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. 2243141

1990
dbSNP: rs104894513
rs104894513
CYBA
T 0.800 CausalMutation CLINVAR