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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.
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BMC Medical Genetics

ISSN: 1471-2350

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