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. 2014 Oct 28;9(10):e109186. doi: 10.1371/journal.pone.0109186

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.