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Table 5 Genotype frequencies of rs5148417 and rs5148418 in non-del patients (n = 199), controls (n = 139) and Han Chinese in 1000 Genome Project (n = 197)

From: Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus

SNP

Genotype frequency (%(n))

Genotype frequency (%(n))

 

Non-del

control

control

1000GPD

rs5748417

    

TT

48.7(97)

35.3(49)

35.3(49)

44.2(87)

TC

39.7(79)

47.5(66)

47.5(66)

43.7(86)

CC

11.6(23)

17.3(24)

17.3(24)

12.2(24)

HWE_P

0.801

1.000

1.000

0.975

χ 2

6.522

3.337

*P(df = 2)

0.038

0.189

rs5748418

    

GG

50.3(100)

35.3(49)

35.3(49)

44.2(87)

GA

40(80)

47.5(66)

47.5(66)

43.7(86)

AA

9.5(19)

17.3(24)

17.3(24)

12.2(24)

HWE_P

1.000

1.000

1.000

0.975

χ 2

9.013

3.337

*P(df = 2)

0.011

0.189

  1. * P-values were calculated using Fisher's exact test.