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. 2014 Jan 30;10(1):e1004147. doi: 10.1371/journal.pgen.1004147

Figure 1. Schematic of rare (MAF<1%) non-synonymous variants used in the gene-level test of total cholesterol (TC) in gene ABCA1.

Figure 1

The x-axis scale (AA) is in amino acid positions. Numbers in parenthesis are the number of copies of the rare variant in persons with phenotype data. The mean TC level in persons possessing variants with bold naming is increased relative to persons without the variant, for all other variants the mean TC level in persons possessing variant alleles is decreased relative to persons without the variant.