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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.