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Table 3 Sequence variants identified in families and observed in the case/control study

From: Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

Variant (Ref/Obs)

Gene

Coordinate (hg19)

Fisher’s exact P

Chi-squared P

Odds ratio (Minor allele)

Odds ratio 95% lower confidence bound

Odds ratio 95% upper confidence bound

Het. cases

Het. controls

W-T cases

W-T controls

Variant

G/T

RAB11FIP5

chr2:73302656

2.10E-01

5.27E-02

infinite

N/A

N/A

1

0

1,540

5,785

P652H

G/C

ABP1

chr7:150554592

2.10E-01

5.27E-02

infinite

N/A

N/A

1

0

1,540

5,785

R345P

T/A

JMJD7-PLA2G4B

chr15:42133295

2.10E-01

5.27E-02

infinite

N/A

N/A

1

0

1,540

5,785

splice site

C/T

C7orf10

chr7:40498796

4.02E-02

3.13E-02

1.62

1.04

2.53

28

65

1,513

5,720

R288W, splice site

C/T

AKAP9

chr7:91724455

6.62E-02

4.44E-02

3.76

0.94

15.03

4

4

1,537

5,781

R3233C

C/T

HEPACAM2

chr7:92825188

5.84E-02

3.88E-02

1.83

1.02

3.27

17

35

1,524

5,750

G398R

G/T

ALX1

chr12:85674230

2.22E-02

1.49E-02

1.75

1.11

2.77

27

58

1,514

5,727

R64L

G/A

AP1G2

chr14:24035159

1.66E-01

1.35E-01

1.67

0.85

3.30

12

27

1,529

5,757

R99C

G/C

CLMN

chr14:95679692

2.29E-01

2.23E-01

1.67

0.73

3.84

8

18

1,533

5,767

P158A

G/A

MOK

chr14:102749873

1.97E-01

1.55E-01

3.76

0.53

26.67

2

2

1,539

5,783

Q22X

G/A

OIP5

chr15:41611874

3.77E-01

2.53E-01

2.25

0.54

9.44

3

5

1,538

5,780

S165F

  1. Het. Refers to individuals heterozygous for the indicated variant.