SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Disease: Amyotrophic Lateral Sclerosis, Familial ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1312702973
rs1312702973
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C4551993
Disease:
Amyotrophic Lateral Sclerosis, Familial 		0.010 GeneticVariation BEFREE A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. 10624810 1999