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: rs768029813
rs768029813
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE Altogether, it is speculated that the N19S mutation of SOD1 in cooperation with associated cell stresses contributes to the onset of ALS as a risk factor. 16035108 2005
dbSNP: rs768029813
rs768029813
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation BEFREE Controls (n = 268) and familial ALS index cases (n = 180) were screened and one control subject with N19S was identified. 12783432 2003