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: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0242379
Disease:
Malignant neoplasm of lung 		0.010 GeneticVariation BEFREE <i>NQO1</i> rs1800566 was significantly associated with lung cancer risk and smoking may influence the association between <i>CYBA</i> rs4673 and the risk of lung cancer. 28529598 2017
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1306460
Disease:
Primary malignant neoplasm of lung 		0.010 GeneticVariation BEFREE <i>NQO1</i> rs1800566 was significantly associated with lung cancer risk and smoking may influence the association between <i>CYBA</i> rs4673 and the risk of lung cancer. 28529598 2017
dbSNP: rs4673
rs4673
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE <i>NQO1</i> rs1800566 was significantly associated with lung cancer risk and smoking may influence the association between <i>CYBA</i> rs4673 and the risk of lung cancer. 28529598 2017
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 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
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		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: rs179363890
rs179363890
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		0.700 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