CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		T 0.800 CausalMutation CLINVAR
dbSNP: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894511
rs104894511
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		A 0.700 CausalMutation CLINVAR
dbSNP: rs119103269
rs119103269
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1439134665
rs1439134665
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1567608853
rs1567608853
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567608853
rs1567608853
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0019209
Disease:
Hepatomegaly 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567608853
rs1567608853
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567608853
rs1567608853
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0427515
Disease:
Neutrophil abnormality 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567608853
rs1567608853
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C3806482
Disease:
Recurrent respiratory infections 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567608853
rs1567608853
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0015967
Disease:
Fever 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1567609091
rs1567609091
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs179363890
rs179363890
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 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: rs179363891
rs179363891
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 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: rs179363893
rs179363893
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 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: rs179363894
rs179363894
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 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