SOD1, superoxide dismutase 1, 6647

N. diseases: 537; N. variants: 47
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1 ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315452
rs74315452
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
CUI: C1862939
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 1 		0.810 GeneticVariation BEFREE We report the coexistence of an Ile113-->Thr substitution in exon 4 of the SOD1 gene and marked neurofilamentous pathology in the same FALS patient. 8572658 1996