Table 2 WES and WGS SKAT-O results and the internal replication in the other data set
| Â | Â | Â | Â | Discovery | Replication | ||||
|---|---|---|---|---|---|---|---|---|---|
Gene | Gene position | Type | Pheno | N | Nvar | P | N | Nvar | P |
Discovery study: WGS | |||||||||
 DEFT1P/ DEFT1P2 | 8:7006280-7008824 | PTV | VLDLPL XL | 187 | 1 | 1.3×10−6 |  |  |  |
 SBDS | 7:66987676-66995696 | PTV | apoC-III | 294 | 2 | 5.0×10−6 |  |  |  |
 RBM47 | 4:40423254-40629866 | PAV | apoC-III | 294 | 3 | 2.0×10−6 | 323 | 1 | 0.398 |
 TRMT5 | 14:60971448-60981690 | PAV | CHOL | 329 | 8 | 3.5×10−6 | 419 | 4 | 0.322 |
|  |  |  | VLDLPL XS | 329 | 8 | 5.9×10−6 | 419 | 4 | 0.015 |
|  |  |  | IDLFC | 329 | 8 | 6.8×10−6 | 419 | 4 | 0.019 |
|  |  |  | LDLC L | 329 | 8 | 9.3×10−6 | 419 | 4 | 0.436 |
 CCAR1 | 10:68721143-68792377 | PAV | VLDL XL | 329 | 2 | 7.4×10−6 | 419 | 3 | 0.555 |
 CYP3A43 | 7:99828012-99866106 | PAV | LDLCE M | 329 | 6 | 8.7×10−6 | 419 | 3 | 0.067 |
|  |  |  | LDLCE L | 329 | 6 | 8.7×10−6 | 419 | 3 | 0.038 |
|  |  |  | LDL M | 329 | 6 | 9.2×10−6 | 419 | 3 | 0.074 |
 DIPK1A | 1:92832728-92961522 | PAV | TG | 451 | 4 | 9.9×10−6 | 469 | 3 | 0.848 |
Discovery study: WES | |||||||||
 PTGER3 | 1:70852352-71047808 | PTV | HDLFC M | 419 | 1 | 9.8×10−6 | 329 | 1 | 0.119 |
 AKAP3 | 12:4615507-4649047 | PAV | VLDLTG XXL | 304 | 5 | 6.0×10−7 | 245 | 5 | 0.766 |
 TTYH1 | 19:54415430-54436719 | PAV | HDLCE L | 419 | 3 | 5.7×10−6 |  |  |  |
 ATP4A | 19:35550192-35563658 | PAV | HDLTG XL | 419 | 3 | 8.1×10−6 | 329 | 3 | 0.810 |