SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1482760341
rs1482760341
Entrez Id: 6647;57466
Gene Symbol: SOD1;SCAF4
SOD1;SCAF4
CUI: C0020550
Disease:
Hyperthyroidism
0.010 GeneticVariation BEFREE We described a large family with a relatively not severe phenotype of ALS (due to a leu144phe SOD1 mutation) that was compromised in one patient by a concomitant hyperthyroidism. 11676987 2001