Gene: SOD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912438
rs121912438
SOD1
C 0.900 CausalMutation CLINVAR

dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR "Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene." 22475618

2012
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop. 19635794

2009
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases. 18951903

2009
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. 19483195

2009
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. 14506936

2003
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant. 10889018

2000
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS. 7836951

1994
dbSNP: rs121912443
rs121912443
SOD1
G 0.890 CausalMutation CLINVAR Mild ALS in Japan associated with novel SOD mutation. 8298637

1993
dbSNP: rs121912431
rs121912431
SOD1
A 0.890 CausalMutation CLINVAR

dbSNP: rs121912431
rs121912431
SOD1
C 0.890 CausalMutation CLINVAR

dbSNP: rs121912436
rs121912436
SOD1
C 0.870 CausalMutation CLINVAR

dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states. 22094223

2011
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR ALS-causing SOD1 mutations promote production of copper-deficient misfolded species. 21549128

2011
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis. 20404329

2010
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis. 19618436

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A. 19800308

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS. 19259395

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. 19483195

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR Age and founder effect of SOD1 A4V mutation causing ALS. 19176896

2009
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state. 12482932

2002
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. 7951249

1994
dbSNP: rs121912442
rs121912442
SOD1 ; LOC102724449
T 0.830 CausalMutation CLINVAR Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519

1993
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
C 0.820 CausalMutation CLINVAR Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center. 27978769

2017