CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28941476
rs28941476 		1.000 0.120 16 88648103 missense variant C/T snv 1.2E-05
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 11 1990 2013
dbSNP: rs104894510
rs104894510 		1.000 0.120 16 88646761 missense variant T/C snv
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 10 1990 2013
dbSNP: rs104894513
rs104894513 		1.000 0.120 16 88646773 missense variant C/T snv 4.0E-06
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 10 1990 2013
dbSNP: rs104894514
rs104894514 		1.000 0.120 16 88646131 missense variant G/A;T snv 1.9E-05; 4.3E-05
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 10 1990 2013
dbSNP: rs104894515
rs104894515 		1.000 0.120 16 88643474 missense variant G/T snv
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 10 1990 2013
dbSNP: rs179363892
rs179363892 		1.000 0.120 16 88646774 missense variant G/A;C snv 4.0E-05; 1.2E-05
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 10 1990 2013
dbSNP: rs104894515
rs104894515 		1.000 0.120 16 88643474 missense variant G/T snv
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 2 1994 2010
dbSNP: rs179363890
rs179363890 		1.000 0.120 16 88647149 missense variant A/G snv 4.1E-06 7.0E-06
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1990 2013
dbSNP: rs179363891
rs179363891 		1.000 0.120 16 88648099 missense variant C/A;T snv
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1990 2013
dbSNP: rs179363893
rs179363893 		1.000 0.120 16 88647146 missense variant T/A;C snv
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1990 2013
dbSNP: rs179363894
rs179363894 		1.000 0.120 16 88643570 missense variant G/A snv 7.7E-06 2.8E-05
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1990 2013
dbSNP: rs546127665
rs546127665 		1.000 16 88652602 missense variant C/G;T snv 6.2E-06; 6.2E-06
CUI: C3553549
Disease: POROKERATOSIS 7, MULTIPLE TYPES
POROKERATOSIS 7, MULTIPLE TYPES 		0.700 1.000 2 2008 2015
dbSNP: rs104894511
rs104894511 		1.000 0.120 16 88651007 stop gained G/A snv
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs119103269
rs119103269 		1.000 0.120 16 88643568 missense variant C/A;T snv
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1439134665
rs1439134665 		1.000 0.120 16 88646796 frameshift variant G/- delins
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567608853
rs1567608853 		0.925 0.160 16 88646212 non coding transcript exon variant G/C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1567608853
rs1567608853 		0.925 0.160 16 88646212 non coding transcript exon variant G/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1567608853
rs1567608853 		0.925 0.160 16 88646212 non coding transcript exon variant G/C snv
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567608853
rs1567608853 		0.925 0.160 16 88646212 non coding transcript exon variant G/C snv
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1567608853
rs1567608853 		0.925 0.160 16 88646212 non coding transcript exon variant G/C snv
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		0.700 0
dbSNP: rs1567608853
rs1567608853 		0.925 0.160 16 88646212 non coding transcript exon variant G/C snv
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1567609091
rs1567609091 		1.000 0.120 16 88646754 splice donor variant C/T snv
CUI: C1856255
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs4673
rs4673 		0.653 0.600 16 88646828 missense variant A/G;T snv 0.70
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2004 2017
dbSNP: rs4673
rs4673 		0.653 0.600 16 88646828 missense variant A/G;T snv 0.70
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs1049254
rs1049254 		0.925 0.160 16 88643420 missense variant A/C;G snv 8.0E-06; 0.65
CUI: C1863999
Disease: Peroxisome Biogenesis Disorder, Complementation Group D
Peroxisome Biogenesis Disorder, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017