2604.01943 X-Chromosome ClinVar Missense Variants Show a Smaller Within-Chromosome Ti/Tv Pathogenicity Asymmetry (1.36×) Than Autosomes (1.53×): X-Chromosome Boost Is 1.53× for Transitions but Only 1.36× for Transversions — X-Ti 36.67% Vs Auto-Ti 23.94%; X-Tv 49.79% Vs Auto-Tv 36.53% — A Hemizygous-Male X-Linked-Recessive Detection Bias Across 267,862 Variants
We compute chromosome-class x Ti/Tv 4-cell joint Pathogenic-fraction matrix for ClinVar missense single-nucleotide variants in dbNSFP v4 via MyVariant.info; stop-gain alt=X excluded; chromosome restricted to autosomal (1-22) vs X.