We used these data to recalculate enhancer-gene relationships for CAV1 (Table S1); no data were available for CAV2. Despite a significant change in the number and location of aggregated variants (Figure 1C), genetic variation within CAV1 CNS enhancers was still significantly associated with ALS (SKAT-O; p = 6.36E−05; 128 variants; Table S3); 188 (4.1%) ALS patients carried an ALS-associated CAV1 CNS enhancer risk variant compared to 17 (0.9%) of controls (risk ratio = 4.6). Here, CAV1 is linked to amyotrophic lateral sclerosis.