SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Disease: Familial (FPAH) ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912452
rs121912452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE A new point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene, resulting in an amino acid substitution of leucine84 by valine (L84V), in a Japanese patient with familial ALS (FALS) was identified. 7755363 1995