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Table 3 Details of the 23 CACNA1S haplotypes with an estimated population frequency ≥ 0.01 in at least one group.

From: The role of CACNA1Sin predisposition to malignant hyperthermia

Haplotype Name rs1546416 rs12029212 rs7415038 rs10920105 rs9427714 rs2296383 rs1536129 rs1325309 Estimated haplotype frequencies
(Std Error)a
          MHS PC 50 sequenced samples
H1 2 2 1 1 1 1 1 1 0.084 (0.008) 0.081 (0.007) 0.081 (0.018)
H2 1 2 1 1 1 1 1 1 0.047 (0.007) 0.075 (0.006) 0.055 (0.018)
H3 2 2 2 1 2 2 1 1 0.065 (0.007) 0.059 (0.007) 0.044 (0.014)
H4 2 2 2 2 2 2 2 1 0.05 (0.006) 0.046 (0.006) 0.07 (0.018)
H5 2 1 1 1 1 1 1 1 0.043 (0.008) 0.04 (0.005) 0.099 (0.019)
H6 2 2 2 1 2 2 2 2 0.03 (0.005) 0.05 (0.005) 0.016 (0.009)
H7 1 2 1 1 1 2 2 1 0.03 (0.005) 0.04 (0.004) 0.012 (0.01)
H8 2 2 2 1 2 2 1 2 0.035 (0.005) 0.032 (0.007) 0.035 (0.009)
H9 2 2 2 2 2 1 1 1 0.031 (0.005) 0.036 (0.004) 0.017 (0.012)
H10 2 2 1 1 1 1 1 2 0.036 (0.006) 0.027 (0.005) 0.03 (0.012)
H11 2 2 2 1 2 2 2 1 0.026 (0.005) 0.029 (0.004) 0.029 (0.011)
H12 1 2 1 1 1 1 1 2 0.017 (0.004) 0.032 (0.005) 0.03 (0.012)
H13 1 2 2 1 2 2 1 1 0.026 (0.006) 0.018 (0.003) 0.03 (0.013)
H14 1 2 1 2 2 2 1 2 0.029 (0.004) 0.014 (0.003) 0.058 (0.01)
H15 2 2 2 2 2 2 2 2 0.025 (0.005) 0.02 (0.005) 0.029 (0.015)
H16 1 2 2 2 2 2 2 1 0.02 (0.006) 0.014 (0.004) 0.03 (0.014)
H17 2 2 2 2 2 1 1 2 0.021 (0.005) 0.019 (0.004) 0.015 (0.01)
H18 1 2 1 1 1 2 2 2 0.018 (0.005) 0.017 (0.003) 0.01 (0.009)
H19 2 2 2 2 2 2 1 1 0.017 (0.004) 0.018 (0.003) 0.005 (0.006)
H20 2 1 1 1 1 1 1 2 0.006 (0.003) 0.025 (0.006) 0.026 (0.013)
H21 1 1 2 2 2 1 1 1 0.015 (0.004) 0.01 (0.002) 0.006 (0.007)
H22 1 2 2 2 2 2 1 2 0.017 (0.004) 0.006 (0.002) 0.005 (0.007)
H23 2 2 2 2 2 2 1 2 0.019 (0.004) 0.007 (0.003) 0.015 (0.01)
  1. aThe estimated haplotype frequencies and standard errors (Std Error) were calculated separately for each of the MHS, Population Control and 50 cDNA CACNA1S sequenced samples using the program PHASE.