Significant associations with ALS were found only for the C9orf72 pathogenic threshold (≥30, OR = 16, 95% CI = 8.5–34, P < 2.2 × 10−16) and ATXN2 premutation threshold (≥29 and <33, OR = 3.0, 95% CI = 1.8–5.6, P = 1.4 × 10−5) (Fig. 3A, Table S11). Here, C9orf72 is linked to amyotrophic lateral sclerosis.