NCF1, neutrophil cytosolic factor 1, 653361

N. diseases: 170; N. variants: 11
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: rs145360423
rs145360423 		0.925 0.120 7 74783529 stop gained G/A snv 6.9E-04 5.3E-04
CUI: C3151409
Disease: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III 		0.700 1.000 1 2015 2015
dbSNP: rs1057519503
rs1057519503 		1.000 0.080 7 74789339 3 prime UTR variant G/A snv
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs119103270
rs119103270 		1.000 0.120 7 74777319 missense variant G/A snv 1.6E-05
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs119103271
rs119103271 		1.000 0.120 7 74779298 stop gained C/G;T snv
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs119103272
rs119103272 		1.000 0.120 7 74779360 stop gained T/A snv
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs119103273
rs119103273 		1.000 0.120 7 74783061 missense variant G/A snv 3.2E-05
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1307080411
rs1307080411 		1.000 0.120 7 74787994 frameshift variant G/- del
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		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: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1563003964
rs1563003964 		1.000 0.120 7 74782989 frameshift variant G/- del
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs4029402
rs4029402 		1.000 0.120 7 74777267 frameshift variant GT/- delins
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
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: rs201802880
rs201802880 		0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.040 1.000 4 2017 2020
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
dbSNP: rs201802880
rs201802880 		0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201802880
rs201802880 		0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201802880
rs201802880 		0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017