NCF2, neutrophil cytosolic factor 2, 4688

N. diseases: 90; N. variants: 30
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: rs119103274
rs119103274 		1.000 0.120 1 183574605 missense variant G/A snv 1.4E-05
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 2001 2001
dbSNP: rs137878529
rs137878529 		1 183574507 missense variant T/C;G 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 1997 1997
dbSNP: rs267606912
rs267606912 		1 183574509 missense variant T/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 1997 1997