Variant 2 Degree of Freedom test p-value Empirical 2 Degree of Freedom test p-value Dominant model p-value Empirical Dominant model p-value Additive model p-value Empirical Additive model p-value Recessive model p-value Empirical Recessive model p-value IVS1 0.897 0.993 0.919 0.996 0.774 0.852 0.643 0.4402 Thr130Ile 0.237 0.0197 0.355 0.0299 0.241 0.0105 0.117 0.0004 IVS4 0.844 0.5 0.680 0.113 0.801 0.5 0.923 0.5 Arg244Gln 0.966 0.5 0.793 0.908 0.803 0.5 0.915 0.5 Val393Ile 0.833 0.5 0.656 0.819 0.777 0.5 0.938 0.5 Ile454Val 0.955 0.5 0.837 0.790 0.901 0.5 0.913 0.5 The empirical p-value is the number of instances that the permuted chi square value exceeds the unpermuted chi square value divided by the total number of permutations. This analysis was performed using 10,000 permutations.

Table 4: Empirical P-values.