Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344454
rs151344454
CYBB
C 0.800 CausalMutation CLINVAR Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes. 28168067

2017
dbSNP: rs137854585
rs137854585
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854586
rs137854586
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854587
rs137854587
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854589
rs137854589
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854590
rs137854590
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854591
rs137854591
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854593
rs137854593
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854595
rs137854595
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854596
rs137854596
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs151344454
rs151344454
CYBB
0.800 GeneticVariation UNIPROT A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections. 27666509

2016
dbSNP: rs137854585
rs137854585
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854586
rs137854586
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854587
rs137854587
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854589
rs137854589
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854590
rs137854590
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854591
rs137854591
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854593
rs137854593
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854594
rs137854594
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854595
rs137854595
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854596
rs137854596
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs151344454
rs151344454
CYBB
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690

2013
dbSNP: rs137854585
rs137854585
CYBB
0.800 GeneticVariation UNIPROT Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease. 22125116

2012
dbSNP: rs137854586
rs137854586
CYBB
0.800 GeneticVariation UNIPROT Identification and functional characterization of two novel mutations in the α-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease. 22125116

2012