Table 5 Allelic test of association for SNPs previously associated with adolescent idiopathic scoliosis (AIS)

From: Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways

SNP_ID

Genes

Context

SNP

Affected

1000 G Controls

CHISQ

p-Value

OR [95% CI]

Ref

Alt

Alt_Fq

Ref

Alt

Alt_Fq

rs12946942

SOX9, KCNJ2

Intergenic

chr17:71240857:G>T

159

7

0.042

1933

313

0.139

12.69

3.68 ×10−4

0.27 [0.13–0.59]

rs10756785

BNC2

Intron

chr9:16700839:C>T

31

135

0.813

699

1547

0.689

11.35

7.56 ×10−4

1.97 [2.94–1.32]

rs3904778

BNC2

Intron

chr9:16681995:C>G

30

136

0.819

663

1583

0.705

9.891

1.66 ×10−3

1.90 [2.85–1.27]

rs7633294

MAGI1

Intron

chr3:65650810:A>G

42

124

0.747

834

1412

0.629

9.356

2.22 ×10−3

1.74 [2.50–1.22]

rs4513093

CDH13

Intron

chr16:82872937:A>G

17

149

0.898

343

1903

0.847

3.081

7.92 ×10−2

1.58 [2.64–0.94]

rs7593846

MEIS1

Intron

chr2:66664256:T>C

139

27

0.163

1777

469

0.209

2.017

1.56 ×10−1

0.74 [0.48–1.13]

rs6137473

FOXA2, PAX1

Intergenic

chr20:21904055:G>A

87

79

0.476

1074

1172

0.522

1.305

2.53 ×10−1

0.83 [1.14–0.61]

rs6047663

PAX1

Regulatory region

chr20:21841272:C>T

83

83

0.500

1047

1199

0.534

0.711

4.00 ×10−1

0.87 [1.20–0.64]

rs13398147

PAX3/EPHA4

Intergenic

chr2:221895559:C>T

125

41

0.247

1754

492

0.219

0.701

4.03 ×10−1

1.17 [0.81–1.69]

rs678741

LBX1, AS1

Intron

chr10:101237824:G>A

60

106

0.639

884

1362

0.606

0.670

4.13 ×10−1

1.15 [1.59–0.83]

rs11190870

LBX1

Intergenic

chr10:101219450:T>C

110

56

0.337

1418

828

0.369

0.653

4.19 ×10−1

0.87 [0.63–1.22]

rs6570507

GPR126

Intron

chr6:142358435:G>A

107

59

0.355

1464

782

0.348

0.036

8.50 ×10−1

1.03 [0.74–1.44]

rs241215

AJAP1

Intergenic

chr1:4544044:T>A

73

93

0.560

971

1275

0.568

0.035

8.52 ×10−1

0.97 [1.33–0.71]

rs4940576

BCL2

Intron

chr18:63181406:T>C

43

123

0.741

576

1670

0.744

0.005

9.42 ×10−1

0.99 [1.41–0.69]

rs169311

PAX1

Intergenic

chr20:21981695:A>C

89

77

0.464

1209

1037

0.462

0.003

9.57 ×10−1

1.01 [0.74–1.38]

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