rs121912437, SOD1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.820 1.000 25 1993 2017
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.700 1.000 1 2017 2017
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.030 1.000 3 2002 2017
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.020 1.000 2 1998 2009
Fatigability
CUI: C0231230
Disease: Fatigability
4 0.851 0.080 21 31667298 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017