NQO1, NAD(P)H quinone dehydrogenase 1, 1728

N. diseases: 368; N. variants: 8
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: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2011 2017
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2011 2017
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2011 2017
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2015 2017
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.070 0.857 7 2004 2016
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.070 0.857 7 2004 2016
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2004 2016
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2004 2016
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 1999 2016
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 1999 2016
dbSNP: rs1131341
rs1131341 		0.925 0.160 16 69714966 missense variant G/A;C snv 3.2E-02 2.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1131341
rs1131341 		0.925 0.160 16 69714966 missense variant G/A;C snv 3.2E-02 2.6E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2016 2016
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2016 2016
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		Digestive System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0751571
Disease: Cancer of Urinary Tract
Cancer of Urinary Tract 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C3274515
Disease: Severe Bronchopulmonary Dysplasia
Severe Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0751571
Disease: Cancer of Urinary Tract
Cancer of Urinary Tract 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800566
rs1800566 		0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.060 0.667 6 2006 2014
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.040 0.750 4 2006 2014
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.040 0.750 4 2006 2014