We did not observe a significant overall enrichment of KIF5A rare missense variants in the familial ALS group when compared to our in-house control group ( n = 6137) or the gnomAD dataset ( n = 138 632; Tables 1 and 2 ). Although we did not detect a significant enrichment of rare missense variants in the patient group, the non-synonymous single nucleotide variant (SNV) rs113247976 showed a trend towards enrichment in ALS patients in a previous GWAS ( McLaughlin et al. , 2017 ).
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