Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912434
rs121912434
SOD1
0.800 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008
dbSNP: rs121912434
rs121912434
SOD1
A 0.800 CausalMutation CLINVAR Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. 19483195

2009
dbSNP: rs121912434
rs121912434
SOD1
0.800 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096

2009
dbSNP: rs121912434
rs121912434
SOD1
A 0.800 CausalMutation CLINVAR Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis. 20404329

2010
dbSNP: rs121912434
rs121912434
SOD1
0.800 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052

2012
dbSNP: rs121912434
rs121912434
SOD1
A 0.800 CausalMutation CLINVAR A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants. 23280792

2012
dbSNP: rs121912434
rs121912434
SOD1
A 0.800 CausalMutation CLINVAR The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis. 26069299

2016
dbSNP: rs121912434
rs121912434
SOD1
A 0.800 CausalMutation CLINVAR Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review. 28291249

2017