Results for fine-mapping of loci previously associated with ALS.

The minor allele of rs10122902 was associated with increased C9orf72 expression levels, while the minor allele of rs1565948 was associated with decreased expression. LD estimates with SNP rs3849942 and SNP association results in the joint GWAS data were based on a total of 3,568 ALS patients and 10,163 controls. The expression explained variance (R2) was estimated from expression data from both discovery and replication eQTL datasets combined. C9orf72, chromosome 9 open reading frame 72; Chr., chromosome; LD, linkage disequilibrium; GWAS, genome-wide association study; OR, odds ratio; eQTL, expression quantitative trait locus.