Table 3.
Sequence variants identified in families and observed in the case/control study
| 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 |
Het. Refers to individuals heterozygous for the indicated variant.