SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
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: rs17881180
rs17881180 		21 31659974 non coding transcript exon variant C/T snv 3.8E-02
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1131690781
rs1131690781 		1.000 0.040 21 31668550 missense variant C/A;G snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121912434
rs121912434 		0.925 0.080 21 31663842 missense variant G/A snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 32 1993 2017
dbSNP: rs121912441
rs121912441 		0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 32 1976 2017
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 30 1993 2013
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 29 1993 2015
dbSNP: rs121912440
rs121912440 		0.882 0.080 21 31667337 missense variant C/G;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 28 1993 2012
dbSNP: rs121912446
rs121912446 		1.000 0.080 21 31668547 missense variant T/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 28 1993 2017
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 27 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 25 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 24 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 24 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 24 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 24 1993 2012
dbSNP: rs121912447
rs121912447 		1.000 0.080 21 31668549 missense variant G/A snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 23 1993 2012
dbSNP: rs121912449
rs121912449 		1.000 0.080 21 31668568 missense variant T/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 23 1993 2012
dbSNP: rs121912450
rs121912450 		1.000 0.080 21 31659833 missense variant G/A snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 23 1993 2012
dbSNP: rs121912451
rs121912451 		0.925 0.080 21 31668517 missense variant G/A;C snv 4.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 23 1993 2012
dbSNP: rs121912453
rs121912453 		1.000 0.080 21 31659818 missense variant G/A;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 23 1993 2012
dbSNP: rs121912457
rs121912457 		1.000 0.080 21 31663854 missense variant T/C;G snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 23 1993 2012
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 22 1993 2017
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 21 1993 2009
dbSNP: rs1169198442
rs1169198442 		1.000 0.080 21 31659837 missense variant A/G;T snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 20 1993 2009
dbSNP: rs1280042397
rs1280042397 		1.000 0.080 21 31667287 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 20 1993 2009
dbSNP: rs1339283341
rs1339283341 		1.000 0.080 21 31667281 missense variant T/C snv
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 20 1993 2009