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: rs121912442
rs121912442
Entrez Id: 6647;102724449
Gene Symbol: SOD1;LOC102724449
SOD1;LOC102724449
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is responsible for 50% of SOD1 mutations associated with familial ALS in North America.This mutation is rare in Europe. 19176896 2009