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: rs121912444
rs121912444 		0.925 0.080 21 31659782 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 2 1993 2015
dbSNP: rs121912444
rs121912444 		0.925 0.080 21 31659782 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs121912442
rs121912442 		0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.060 1.000 6 1994 2018
dbSNP: rs121912442
rs121912442 		0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 1999 2018
dbSNP: rs121912442
rs121912442 		0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.830 1.000 3 1993 2012
dbSNP: rs121912442
rs121912442 		0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121912442
rs121912442 		0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121912442
rs121912442 		0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs121912442
rs121912442 		0.807 0.120 21 31659783 missense variant C/T snv 3.6E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2009 2009
dbSNP: rs1312702973
rs1312702973 		1.000 0.080 21 31659788 missense variant T/A;G snv 4.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121912448
rs121912448 		0.925 0.080 21 31659789 missense variant G/A;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 1 1993 2012
dbSNP: rs121912448
rs121912448 		0.925 0.080 21 31659789 missense variant G/A;T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs762628133
rs762628133 		1.000 0.080 21 31659803 missense variant G/T snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121912456
rs121912456 		0.851 0.120 21 31659806 missense variant G/C snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 2005 2005
dbSNP: rs121912456
rs121912456 		0.851 0.120 21 31659806 missense variant G/C snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs121912456
rs121912456 		0.851 0.120 21 31659806 missense variant G/C snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 2005 2005
dbSNP: rs121912456
rs121912456 		0.851 0.120 21 31659806 missense variant G/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1999 1999
dbSNP: rs121912456
rs121912456 		0.851 0.120 21 31659806 missense variant G/C snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2005 2005
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