SOD2, superoxide dismutase 2, 6648

N. diseases: 668; N. variants: 32
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: rs6912979
rs6912979 		6 159699767 intron variant T/C snv 0.27
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.100 0.857 14 2007 2016
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.100 0.857 14 2007 2016
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.667 12 2006 2018
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.667 12 2006 2018
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.090 0.889 9 2004 2017
dbSNP: rs953038635
rs953038635 		0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.090 0.667 9 2000 2015
dbSNP: rs953038635
rs953038635 		0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.090 0.778 9 2000 2015
dbSNP: rs953038635
rs953038635 		0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.090 0.778 9 2000 2015
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.080 0.875 8 2004 2017
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.080 0.875 8 2004 2017
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.070 0.857 7 2006 2016
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.050 0.600 5 2006 2018
dbSNP: rs953038635
rs953038635 		0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2004 2013
dbSNP: rs953038635
rs953038635 		0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2004 2013
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 1.000 4 2010 2016
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.040 0.500 4 2006 2018
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.040 1.000 4 2009 2015
dbSNP: rs1261281771
rs1261281771 		0.925 0.080 6 159688191 missense variant C/G snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2003 2017
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.030 1.000 3 2007 2018
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.030 0.667 3 2006 2009
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2008 2015
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.030 1.000 3 2010 2017
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2009 2019
dbSNP: rs4880
rs4880 		0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.030 1.000 3 2012 2019