Figure 4. Splicing QTLs overlapping GWAS.
(a) An sQTL for TNFRSF1A leads to skipping of exon 6, and overlaps with a multiple sclerosis association. (b) An sQTL for SIPA1L2 leads to increased skipping of an unannotated exon between alternative promoters, and overlaps with a Parkinson’s disease association. (c) An sQTL for APOPT1 alters skipping of exons 2 and 3, and overlaps with a schizophrenia association. P values are from the FastQTL beta approximation based on 10,000 permutations. Boxplots show the median, 25th and 75th percentiles, with whiskers extending 1.5 times the interquartile range.