Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80265967
rs80265967
0.020 GeneticVariation BEFREE One novel mutation (p.I99V) and a homozygous p.D90A mutation were identified in SALS patients. 19965850

2010

dbSNP: rs80265967
rs80265967
0.020 GeneticVariation BEFREE D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis. 8909456

1996

dbSNP: rs74315452
rs74315452
0.010 GeneticVariation BEFREE An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation. 23773010

2014

dbSNP: rs774994509
rs774994509
0.010 GeneticVariation BEFREE SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant. 21621297

2011

dbSNP: rs121912438
rs121912438
0.010 GeneticVariation BEFREE The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. 20176600

2010

dbSNP: rs760740095
rs760740095
0.010 GeneticVariation BEFREE One novel mutation (p.I99V) and a homozygous p.D90A mutation were identified in SALS patients. 19965850

2010

dbSNP: rs567432143
rs567432143
0.010 GeneticVariation BEFREE We report a novel missense mutation (Asp109Tyr) in exon 4 of the Cu/Zn superoxide dismutase (sod1) gene in a woman with apparently sporadic amyotrophic lateral sclerosis (SALS). 17257622

2007

dbSNP: rs768029813
rs768029813
0.010 GeneticVariation BEFREE N19S, a new SOD1 mutation in sporadic amyotrophic lateral sclerosis: no evidence for disease causation. 12783432

2003