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. 2014 Sep 4;95(3):301–307. doi: 10.1016/j.ajhg.2014.07.014

Table 1.

Example Haplotype Frequencies for Disease and Marker Loci and Calculation of the Risk Ratio of the Marker

Frequency D = 0 D = 1 Total Pr(Y = 1,D,M) D = 0 D = 1 Total RR(M)
M = 0 0.9 0 0.9 0.9 0 0.9 1.0
M = 1 0.05 0.05 0.1 0.05 0.1 0.15 1.5

Abbreviations are as follows: D, allele at causal variant; M, allele at marker locus; Y, disease phenotype. Risk ratio (RR) of D = 1 is 2. Pr(Y = 1,D,M) is relative to a baseline that cancels in the marker risk ratio; see Appendix A for details of calculations.