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Table 3 Allele frequencies of SNPs in del22q11 patients (n = 13), 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

$A F (%(n))

$A F (%(n))

$A F (%(n))

$A F (%(n))

 

del

non-del

non-del

control

del

control

control

#1000GPD

rs5748417

        

T

53.8(7)

68.6(273)

68.6(273)

59.0(164)

53.8(7)

59.0(164)

59.0(164)

66.0(260)

C

46.2(6)

31.4(125)

31.4(125)

41.0(114)

46.2(6)

41.0(114)

41.0(114)

34.0(134)

χ 2

1.261

6.600

0.136

3.427

*P(df = 1)

0.363

0.011

0.777

0.074

rs5748418

        

G

53.8(7)

72.9(290)

72.9(290)

59.0(164)

53.8(7)

59.0(164)

59.0(164)

66.0(260)

A

46.2(6)

27.1(108)

27.1(108)

41.0(114)

46.2(6)

41.0(114)

41.0(114)

34.0(134)

χ 2

2.272

14.28

0.136

3.427

*P(df = 1)

0.203

2.0E-4

0.777

0.074

rs737868

        

G

46.2(6)

31.7(126)

31.7(126)

38.8(108)

46.2(6)

38.8(108)

38.8(108)

39.8(157)

C

53.8(7)

68.3(272)

68.3(272)

61.2(170)

53.8(7)

61.2(170)

61.2(170)

60.2(237)

χ 2

1.213

3.739

0.278

0.068

*P(df = 1)

0.364

0.059

0.772

0.081

rs41298814

        

T

61.5(8)

46.2(184)

46.2(184)

51.8(144)

61.5(8)

51.8(144)

51.8(144)

51.5(203)

C

38.5(5)

53.8(214)

53.8(214)

48.2(134)

38.5(5)

48.2(134)

48.2(134)

48.5(191)

χ 2

1.185

2.031

0.472

0.005

*P(df = 1)

0.398

0.160

0.577

1.000

rs2301558

        

T

23.1(3)

14.8(59)

14.8(59)

14.4(40)

23.1(3)

14.4(40)

14.4(40)

12.4(49)

C

76.9(10)

85.2(339)

85.2(339)

85.6(238)

76.9(10)

85.6(238)

85.6(238)

87.6(345)

χ 2

0.669

0.025

0.744

0.540

*P(df = 1)

0.426

0.912

0.744

0.489

rs41298840

        

A

76.9(10)

44.7(178)

44.7(178)

47.1(131)

76.9(10)

47.1(131)

47.1(131)

52.3(206)

G

23.1(3)

55.3(220)

55.3(220)

52.9(147)

23.1(3)

52.9(147)

52.9(147)

47.7(188)

χ 2

5.275

0.379

4.416

1.737

*P(df = 1)

0.025

0.583

0.046

0.210

rs4819522

        

C

76.9(10)

86.3(344)

86.4(344)

86.3(240)

76.9(10)

86.3(240)

86.3(240)

87.1(343)

T

23.1(3)

13.6(54)

13.6(54)

13.7(38)

23.1(3)

13.7(38)

13.7(38)

12.9(51)

χ 2

0.953

0.001

0.908

0.075

*P(df = 1)

0.403

1.000

0.404

0.818

rs5746826

        

G

53.8(7)

33.9(135)

33.9(135)

38.1(106)

53.8(7)

38.1(106)

38.1(106)

37.6(148)

T

46.2(6)

66.1(263)

66.1(263)

61.9(172)

46.2(6)

61.9(172)

61.9(172)

62.4(246)

χ 2

2.211

1.264

1.292

0.022

*P(df = 1)

0.148

0.289

0.262

0.936

  1. Abbreviation: $A F indicates the allele frequency. * P-values were calculated using Fisher's exact test. #the 1000 Genome Project Database.