Figure 5.
Refined association between SCRIB and white-matter integrity of tapetum
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(A) The summary of association information between pLoF variants in SCRIB with mean orientation dispersion (OD) index in tapetum on fractional anisotropy (FA) skeleton (from diffusion magnetic resonance imaging [dMRI] data).
(B) A rare variant Manhattan plot of 8 rare pLoF variants is shown.
(C) Details for the component variants are shown in a table, including their functional consequence (CSQ), a detailed protein-coding annotation (HGVSp), and the association p value and beta, as well as frequency information (AC, allele count; Hom, number of homozygotes; AN, allele number; AF, allele frequency). Each component pLoF variant in scrib has a positive beta value, and in aggregate, these variants show an association at p = 6 × 10−15 (A).
(D) A Manhattan plot of a previous GWAS29 of FA averaged across brain regions (top), body of corpus callosum (middle), and splenium of corpus callosum (bottom). Horizontal dashed line indicates a GWAS genome-wide significance threshold (5 × 10−8), and vertical line indicates the location of SCRIB.