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: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 0.995 416 1996 2020
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 30 1996 2016
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.100 0.947 19 2001 2015
dbSNP: rs121912431
rs121912431 		0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 17 1997 2017
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.900 1.000 16 1993 2016
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.100 1.000 15 1994 2017
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.100 1.000 14 1997 2013
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.100 1.000 14 1997 2013
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.100 1.000 14 1997 2013
dbSNP: rs121912436
rs121912436 		0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 13 2000 2019
dbSNP: rs121912443
rs121912443 		0.732 0.160 21 31663857 missense variant A/G snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 12 1994 2005
dbSNP: rs121912443
rs121912443 		0.732 0.160 21 31663857 missense variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 0.917 12 1994 2017
dbSNP: rs121912431
rs121912431 		0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.890 0.969 9 1993 2012
dbSNP: rs121912443
rs121912443 		0.732 0.160 21 31663857 missense variant A/G snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.890 1.000 9 1993 2014
dbSNP: rs121912436
rs121912436 		0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.870 1.000 7 1993 2013
dbSNP: rs121912436
rs121912436 		0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.070 1.000 7 2000 2018
dbSNP: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.070 1.000 7 1997 2015
dbSNP: rs121912431
rs121912431 		0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.060 1.000 6 1997 2008
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: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.050 1.000 5 2003 2019
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.050 1.000 5 2010 2016
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.050 1.000 5 2007 2016
dbSNP: rs121912431
rs121912431 		0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.040 1.000 4 2002 2011
dbSNP: rs121912431
rs121912431 		0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.040 1.000 4 2002 2011
dbSNP: rs121912431
rs121912431 		0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.740 1.000 4 1995 2019