  Deleterious genetic variants can be evaluated as quantitative traits using
information theory-based sequence analysis of recognition sites. To assess the
effect of such variants, fitness and genetic load of SNPs which alter binding
site affinity are derived from changes in individual information and allele
frequencies. Human SNPs that alter mRNA splicing are partitioned according to
their genetic load. SNPs with high genetic loads (>0.5) are common in the
genome and, in many instances, predicted effects are supported by gene
expression studies.
