SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Disease: Amyotrophic Lateral Sclerosis ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762628133
rs762628133
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE We report a new mutation (D11Y) in the Cu/Zn superoxide dismutase gene in a patient with ALS and an unusually slow disease progression. 20740631 2010