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Table 3 Results of the rare variant analyses

From: Pleiotropy between language impairment and broader behavioral disorders—an investigation of both common and rare genetic variants

Phenotype

ASD

Childhood autism

Asperger’s syndrome

ADHD

Schizophrenia

Gene

Number of variants

P value

Rho

Number of variants

P value

Rho

Number of variants

P value

Rho

Number of variants

P value

Rho

Number of variants

P value

Rho

NOP9

61

0.059

0

46

0.103

0

49

0.108

0.5

57

0.242

0

47

0.111

0.4

KMT2D

454

0.227

0

361

0.545

0

361

0.319

1

435

0.533

1

337

0.126

0.7

RORB

14

0.243

1

11

0.033

1

12

0.894

1

14

0.300

1

11

0.397

1

ABCC13

1

0.138

NA

1

0.180

NA

1

0.584

NA

1

0.383

NA

1

0.079

NA

NDST4

45

0.011

0.4

42

0.270

1

43

0.117

0.4

48

0.215

1

44

0.142

1

FAT3

361

0.361

1

289

0.549

1

291

0.420

1

337

0.144

0.6

278

0.726

0

CMIP

22

0.402

1

18

1.000

1

18

0.637

0

23

1.000

0

17

0.715

0

PALB2

83

0.551

0

64

0.592

0

67

0.827

1

75

0.747

1

65

0.633

0

SCN9A

130

0.093

0

103

0.578

0

109

0.396

0

126

0.153

0

102

0.308

1

MUC6

31

0.857

1

27

0.816

0

28

1.000

1

32

0.752

1

28

0.815

1

NFXL1

26

0.519

1

13

0.695

0

15

0.235

1

17

0.849

1

13

0.559

0

OXR1

41

0.572

0.7

34

0.876

1

34

0.779

1

41

0.365

0

34

0.497

1

ATP2C2

161

0.895

1

122

0.460

0

131

0.317

1

159

0.359

1

118

0.650

1

SETBP1

106

0.777

1

88

0.790

1

91

0.365

1

105

0.322

1

85

0.018

1

CNTNAP2

0

NA

NA

0

NA

NA

0

NA

NA

0

NA

NA

0

NA

NA

  1. The number of variants refers to the number of variants passing QC and count/frequency thresholds for each gene. Associations in italic are only nominally significant
  2. ASD autism spectrum disorder, ADHD attention deficit/hyperactivity disorder, NA not applicable