NCF2, neutrophil cytosolic factor 2, 4688

N. diseases: 90; N. variants: 30
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: rs137854508
rs137854508 		1.000 0.120 1 183573189 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 11 1994 2014
dbSNP: rs17849502
rs17849502 		0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.720 1.000 4 2012 2019
dbSNP: rs10911363
rs10911363 		0.925 0.120 1 183580622 intron variant G/T snv 0.30
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2009 2011
dbSNP: rs13306575
rs13306575 		1.000 0.080 1 183563302 missense variant G/A;C;T snv 1.9E-02; 4.0E-06; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2015 2016
dbSNP: rs137854507
rs137854507 		1.000 0.120 1 183577686 missense variant G/C snv 4.0E-06
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854509
rs137854509 		1.000 0.120 1 183577642 missense variant T/A snv
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854510
rs137854510 		1.000 0.120 1 183590200 missense variant C/A;G snv
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854514
rs137854514 		1.000 0.120 1 183590205 missense variant T/C snv
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854515
rs137854515 		1.000 0.120 1 183577660 missense variant C/A;G;T snv 8.0E-06; 2.4E-05
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854516
rs137854516 		1.000 0.120 1 183574579 missense variant A/C;T snv 4.0E-06
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854517
rs137854517 		1.000 0.120 1 183573289 missense variant G/C snv
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854518
rs137854518 		1.000 0.120 1 183573243 missense variant C/G snv 1.2E-05
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854519
rs137854519 		1.000 0.120 1 183586919 missense variant C/T snv
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs137854520
rs137854520 		1.000 0.120 1 183574569 missense variant G/A;T snv
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 10 1994 2013
dbSNP: rs796065033
rs796065033 		1.000 0.120 1 183590267 inframe deletion TTCTTGTCC/- delins 4.0E-06 1.4E-05
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 1999 2008
dbSNP: rs1558092897
rs1558092897 		1.000 0.120 1 183564004 splice donor variant C/G snv
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 1999 2010
dbSNP: rs17849501
rs17849501 		1.000 0.080 1 183573188 synonymous variant C/T snv 3.4E-02 3.6E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs17849502
rs17849502 		0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2016 2019
dbSNP: rs17849502
rs17849502 		0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs17849502
rs17849502 		0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs17849502
rs17849502 		0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs119103274
rs119103274 		1.000 0.120 1 183574605 missense variant G/A snv 1.4E-05
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs119103275
rs119103275 		1.000 0.120 1 183586922 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs119103276
rs119103276 		1.000 0.120 1 183577667 stop gained G/A;C;T snv 1.1E-03; 4.0E-06
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1290169467
rs1290169467 		1.000 0.120 1 183590290 frameshift variant C/- delins 7.0E-06
CUI: C1856245
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0