NCF1, neutrophil cytosolic factor 1, 653361

N. diseases: 170; N. variants: 11
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: rs4029402
rs4029402 		1.000 0.120 7 74777267 frameshift variant GT/- delins
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs145360423
rs145360423 		0.925 0.120 7 74783529 stop gained G/A snv 6.9E-04 5.3E-04
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2018 2018
dbSNP: rs1489201208
rs1489201208 		7 74785283 missense variant G/A snv
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018