SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Amyotrophic Lateral Sclerosis, Familial ×
Source: ALL
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: 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: 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: 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: 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: rs74315452
rs74315452 		0.732 0.160 21 31667356 missense variant T/C snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 1.000 4 1999 2015
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: rs121912432
rs121912432 		0.925 0.080 21 31663832 missense variant C/G snv 4.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2000 2003
dbSNP: rs121912437
rs121912437 		0.851 0.080 21 31667298 missense variant G/A;C;T snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1998 2009
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: rs121912445
rs121912445 		0.882 0.080 21 31667331 missense variant A/T snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1996 2017
dbSNP: rs121912433
rs121912433 		0.827 0.120 21 31663841 missense variant G/A 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 2012 2012
dbSNP: rs121912440
rs121912440 		0.882 0.080 21 31667337 missense variant C/G;T snv
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
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: rs121912451
rs121912451 		0.925 0.080 21 31668517 missense variant G/A;C 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 2005 2005
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: rs121912455
rs121912455 		0.882 0.080 21 31666496 missense variant G/A;T 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 2011 2011
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: 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: 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