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: 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: 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: 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: rs121912437
rs121912437 		0.851 0.080 21 31667298 missense variant G/A;C;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 2 1993 2017
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: rs1482760341
rs1482760341 		0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.820 1.000 2 1993 2017
dbSNP: rs121912432
rs121912432 		0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06
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: rs121912435
rs121912435 		0.925 0.080 21 31663848 missense variant A/G snv 4.0E-06
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: rs121912439
rs121912439 		0.851 0.080 21 31667320 missense variant A/G 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: 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: rs121912452
rs121912452 		0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06
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: rs121912455
rs121912455 		0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06
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: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C 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: 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
dbSNP: rs121912445
rs121912445 		0.882 0.080 21 31667331 missense variant A/T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 2 1993 2017
dbSNP: rs1315541036
rs1315541036 		0.925 0.080 21 31667273 missense variant G/A;C 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 0.710 1.000 1 2001 2001
dbSNP: rs1424014997
rs1424014997 		0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 1993 2009
dbSNP: rs1476760624
rs1476760624 		1.000 0.080 21 31668559 missense variant T/G snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 1997 1997
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: rs80265967
rs80265967 		0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 1.000 30 1995 2020
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