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: rs8053497
rs8053497 		16 69721997 intron variant A/G snv 3.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs372951639
rs372951639 		1.000 0.040 16 69718484 missense variant A/T snv 1.6E-05 3.5E-05
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2012 2012
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: rs1319831679
rs1319831679 		1.000 0.080 16 69711169 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
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: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2008 2010
dbSNP: rs1182593032
rs1182593032 		0.851 0.200 16 69718516 missense variant A/G snv
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.020 1.000 2 2008 2010
dbSNP: rs1182593032
rs1182593032 		0.851 0.200 16 69718516 missense variant A/G snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 2008 2010
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.090 1.000 9 2010 2019
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.090 1.000 9 2010 2019
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: 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
dbSNP: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.030 1.000 3 2006 2010
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: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.030 1.000 3 2006 2010
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: rs1258159645
rs1258159645 		0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.030 1.000 3 2003 2010