Table 2. Transition Bias in CFTR Mutations Associated with Human Disease.
| Wild Type | Disease associated mutation* | Number of Occurrences | SNP | Total observation |
| A | C | 39 | - | |
| C | A | 50 | A/C | 89 |
| A | T | 45 | - | |
| T | A | 57 | A/T | 102 |
| C | G | 49 | - | |
| G | C | 57 | G/C | 106 |
| C | T | 130 | - | |
| T | C | 104 | C/T | 234 # |
| G | A | 179 | - | |
| A | G | 157 | A/G | 336 # |
| G | T | 100 | - | |
| T | G | 69 | G/T | 169 |
| Total = 1036 | Total = 1036 | |||
Incidence of the possible SNP configurations (transition vs. transversion) among>1000 SNPs, many of which have been implicated in clinical CF (http://www.genet.sickkids.on.ca/cftr/app). p values indicate a bias towards transition based on an assumption of equal probability for any individual base replacement. Transition:transversion ratio = 1.2.
#p = 1.3×10−56 for transition SNPs.