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: rs1020475809
rs1020475809 		0.925 0.080 16 69711027 synonymous variant A/G snv 2.0E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1020475809
rs1020475809 		0.925 0.080 16 69711027 synonymous variant A/G snv 2.0E-05 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1131341
rs1131341 		0.925 0.160 16 69714966 missense variant G/A;C snv 3.2E-02 2.6E-02
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2014 2014
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: rs1131341
rs1131341 		0.925 0.160 16 69714966 missense variant G/A;C snv 3.2E-02 2.6E-02
CUI: C4054727
Disease: Infant Acute Lymphoblastic Leukemia
Infant Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1182593032
rs1182593032 		0.851 0.200 16 69718516 missense variant A/G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 1999 1999
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: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C4054727
Disease: Infant Acute Lymphoblastic Leukemia
Infant Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome 		Chemically-Induced Disorders; Mental Disorders 0.010 < 0.001 1 2003 2003