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: rs121912459
rs121912459
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. 11220750 2001