Gene: SOD1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.820 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
C 0.820 CausalMutation CLINVAR Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. 9029070

1997
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
C 0.820 CausalMutation CLINVAR ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival. 21700728

2012
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.820 GeneticVariation UNIPROT Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. 7887412

1995
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
C 0.820 CausalMutation CLINVAR Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect. 15258228

2004
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.820 GeneticVariation UNIPROT 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: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.820 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
C 0.820 CausalMutation CLINVAR ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene. 11676987

2001
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.820 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
C 0.820 CausalMutation CLINVAR Extensive genetics of ALS: a population-based study in Italy. 23100398

2012
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.820 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004
dbSNP: rs1482760341
rs1482760341
SOD1 ; SCAF4
0.820 GeneticVariation UNIPROT Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. 7881433

1994
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
0.800 GeneticVariation UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652

1997
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
C 0.800 CausalMutation CLINVAR A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants. 23280792

2012
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
0.800 GeneticVariation UNIPROT Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. 7951252

1994
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
C 0.800 CausalMutation CLINVAR Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. 19483195

2009
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
0.800 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
0.800 GeneticVariation UNIPROT Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. 8528216

1995
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
C 0.800 CausalMutation CLINVAR Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center. 27978769

2017
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
C 0.800 CausalMutation CLINVAR Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients. 23062701

2013
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
0.800 GeneticVariation UNIPROT A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. 8907321

1996
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
0.800 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
0.800 GeneticVariation UNIPROT Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 8446170

1993
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
C 0.800 CausalMutation CLINVAR Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. 7496169

1995
dbSNP: rs121912446
rs121912446
SOD1 ; SCAF4
0.800 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004