Table 2 of
Chen, Mol Vis 2016; 22:783-796. Table 2 of
Chen, Mol Vis 2016; 22:783-796.
Table 2. Significant gene-based association results (p<4.3 × 10−6).
| Gene | Locationa | Best Test | P value | No. of variants | Amino Acid Alteration (N)b |
|---|---|---|---|---|---|
| PTCHD2 | 1p36.22 | SKAT | 3.6 × 10−7 | 4 | p.Arg260Pro(2), p.Arg542His(16), p.Pro1034=(1), p.Val1178Ile(2) |
| CRISP3 | 6p12.3 | SKAT | 4.3 × 10−6 | 3 | p.Pro197Thr(3), p.Gly141Ala(2), p.Arg103Gln(1) |
| NAP1L4 | 11p15.5 | SKAT | 3.6 × 10−6 | 2 | p.Ala369Val(1), p.Thr111Ile(2) |
| FSCB | 14q21.2 | SKAT | 1.5 × 10−7 | 6 | p.Val714Ile(2), p.Ala392Thr(8), p.Ala310Val(1), p.Ala281Val(19), p.Lys251Arg(1), p.Gln74Ter(8) |
| AP3B2 | 15q25.2 | Burden | 1.6 × 10−7 | 3 | p.Ser946Thr(3), p.Lys880Arg(1), p.Lys262Thr(2) |