Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912441
rs121912441
SOD1
0.800 GeneticVariation UNIPROT Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. 8069312

1994
dbSNP: rs121912441
rs121912441
SOD1
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: rs121912441
rs121912441
SOD1
0.800 GeneticVariation UNIPROT Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. 7881433

1994
dbSNP: rs121912441
rs121912441
SOD1
0.800 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: rs121912441
rs121912441
SOD1
0.800 GeneticVariation UNIPROT Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519

1993
dbSNP: rs121912441
rs121912441
SOD1
0.800 GeneticVariation UNIPROT Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 8446170

1993
dbSNP: rs121912441
rs121912441
SOD1
C 0.800 CausalMutation CLINVAR Influence of cephalosporin antibiotics on blood coagulation and platelet function. 1259395

1976