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Table 2 Allelic distribution frequency of the RET SNPs

From: Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

  

Male

female

RETvariants

Alleles

HSCR (%)

Controls (%)

HSCR (%)

Controls (%)

c.73+9277T > C

T

250 (64.77)

52 (20.15)

37 (56.06)

21 (21.43)

rs2435357

C

136 (35.24)

206 (79.85)

29 (43.93)

77 (78.57)

  

χ 2 = 121.79 p = 2.55·10 -28 ←

χ 2 = 36.96 p = 0.0000117←

c.74-1370C > T

C

328 (84.97)

143 (55.43)

56 (84.85)

46 (46.94)

rs2505532

T

58 (15.03)

115 (44.57)

10 (15.15)

52 (53.06)

  

χ 2 = 67.22 p = 2.42·10 -16 ←

χ 2 = 22.52 p = 0.0000021←

c.74-126G > T

G

300 (77.72)

175 (67.83)

48 (72.72)

70 (71.42)

rs2565206

T

86 (22.28)

83 (32.17)

18 (27.27)

28 (28.57)

  

χ 2 = 7.31 p = 0.0068453←

χ2 = 0.00 p = 0.9965511

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BMC Medical Genetics

ISSN: 1471-2350

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