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: rs121912439
rs121912439 		0.851 0.080 21 31667320 missense variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1995 1995
dbSNP: rs121912452
rs121912452 		0.807 0.120 21 31667271 missense variant T/C;G snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1995 1995
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: rs121912445
rs121912445 		0.882 0.080 21 31667331 missense variant A/T snv
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 1996 1996
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: rs121912452
rs121912452 		0.807 0.120 21 31667271 missense variant T/C;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 1996 1996
dbSNP: rs567511139
rs567511139 		0.925 0.080 21 31668558 missense variant G/A snv 1.2E-05 7.0E-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: rs80265967
rs80265967 		0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1996 1996
dbSNP: rs121912436
rs121912436 		0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 1.000 1 1997 1997
dbSNP: rs121912436
rs121912436 		0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		0.010 1.000 1 1997 1997
dbSNP: rs121912455
rs121912455 		0.882 0.080 21 31666496 missense variant G/A;T snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1997 1997
dbSNP: rs1424014997
rs1424014997 		0.882 0.080 21 31668562 missense variant T/C snv 8.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1997 1997
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: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1997 1997
dbSNP: rs121912439
rs121912439 		0.851 0.080 21 31667320 missense variant A/G snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1997 1998
dbSNP: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999
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: 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: rs121912438
rs121912438 		0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C0205858
Disease: General Paralysis
General Paralysis 		Infections; Nervous System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs80265967
rs80265967 		0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 1998 2001
dbSNP: rs121912431
rs121912431 		0.742 0.160 21 31663829 missense variant G/A;C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 1.000 2 2000 2001
dbSNP: rs121912459
rs121912459 		0.925 0.080 21 31667307 missense variant G/A snv 2.4E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
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: rs1482760341
rs1482760341 		0.925 0.120 21 31668548 missense variant G/C;T snv 1.6E-05
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs80265967
rs80265967 		0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C0030552
Disease: Paresis
Paresis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2001 2001