SOD1 and amyotrophic lateral sclerosis: These include the known p.D90A mutation in SOD1 (MAF = 0.006) as well as rare variants in KIF5A (MAF = 0.016) and CFAP410 (MAF = 0.012) for which, after their identification through GWAS, experimental work confirmed their direct role in ALS pathophysiology11,28,40.