Transition Bias in Human SNPs.

Incidence of six possible SNP configurations (transition and transversion) for CFTR intronic regions, and coding sequence from CFTR and 97 other human genes containing at least one exonic SNP (Figure 2 and Table S2). Underlined = transition mutations. The p values (based on an assumption of equal probability for any individual base replacement) indicate a strong bias in favor of transitions over transversions in both the human CFTR intronic DNA and the exonic sequences of 98 human genes. Transition∶transversion ratio for CFTR intronic SNPs = 2.1; for exonic SNPs in 98 genes = 3.6.*p = 8.5×10−20.**p = 5.7×10−70.Transition Bias in Human SNPs.