CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
Disease: Chronic granulomatous disease ×
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: 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: rs1049254
rs1049254 		0.925 0.160 16 88643420 missense variant A/C;G snv 8.0E-06; 0.65
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1049255
rs1049255 		0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4673
rs4673 		0.653 0.600 16 88646828 missense variant A/G;T snv 0.70
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017