SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Source: BEFREE ×
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: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
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 2018 2018
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0740447
Disease: Diabetic peripheral neuropathy
Diabetic peripheral neuropathy 		Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0275551
Disease: Primary bacterial peritonitis
Primary bacterial peritonitis 		Digestive System Diseases; Infections 0.010 1.000 1 2017 2017
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2017 2017
dbSNP: rs1041740
rs1041740 		0.807 0.320 21 31667849 intron variant C/T snv 0.24
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C4553752
Disease: Stage IV Prostate Cancer AJCC v8
Stage IV Prostate Cancer AJCC v8 		0.010 1.000 1 2015 2015
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C3146264
Disease: Stage IV Prostate Cancer AJCC v7
Stage IV Prostate Cancer AJCC v7 		0.010 1.000 1 2015 2015
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10432782
rs10432782 		0.807 0.160 21 31664078 intron variant T/G snv 0.19
CUI: C0278837
Disease: Stage IV Prostate Carcinoma
Stage IV Prostate Carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 0.500 2 2004 2011
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2012
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1202989817
rs1202989817 		0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006