SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Motor Neuron Disease ×
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: 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 5 1995 2019
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: rs121912437
rs121912437 		0.851 0.080 21 31667298 missense variant G/A;C;T snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121912439
rs121912439 		0.851 0.080 21 31667320 missense variant A/G snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs121912441
rs121912441 		0.925 0.080 21 31667359 missense variant T/C snv 4.8E-05 7.0E-06
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
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: rs121912443
rs121912443 		0.732 0.160 21 31663857 missense variant A/G snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.030 1.000 3 2007 2015
dbSNP: rs80265967
rs80265967 		0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.030 1.000 3 1996 2006
dbSNP: rs121912436
rs121912436 		0.827 0.080 21 31667274 missense variant G/A;C snv
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		Nervous System Diseases 0.010 1.000 1 2010 2010