Last, we performed inverse variance weighted meta-analysis using both discovery and replication cohorts and observed an increase burden of rare variant on NUP50 (P = 3.7 × 10−03; odds ratio = 3.29; 95%CI, 1.37–7.87), in a range similar to SOD1 (P = 2.45 × 10−03; odds ratio = 8.10; 95%CI, 1.88–34.8) in ALS patients (Fig. 3b). Here, SOD1 is linked to amyotrophic lateral sclerosis.