| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs144495588 | 0.925 | 0.120 | 8 | 1771553 | stop gained | G/C;T | snv | 8.0E-06; 1.2E-05 | 2 | ||
| rs188259026 | 1.000 | 0.120 | 8 | 1771563 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 1 | ||
| rs756267448 | 1.000 | 0.120 | 8 | 1771598 | splice donor variant | G/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
| rs1554451484 | 1.000 | 0.120 | 8 | 1780248 | splice acceptor variant | A/G | snv | 1 | |||
| rs386834132 | 1.000 | 0.120 | 8 | 1780265 | frameshift variant | CT/- | delins | 1 | |||
| rs386834133 | 1.000 | 0.120 | 8 | 1780287 | missense variant | A/G | snv | 1 | |||
| rs1554451504 | 1.000 | 0.120 | 8 | 1780299 | frameshift variant | T/- | delins | 1 | |||
| rs104894060 | 0.882 | 0.120 | 8 | 1780316 | missense variant | C/T | snv | 3.2E-05 | 7.0E-06 | 3 | |
| rs386834134 | 1.000 | 0.120 | 8 | 1780317 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs781166361 | 1.000 | 0.120 | 8 | 1780326 | missense variant | T/G | snv | 4.0E-06 | 1 | ||
| rs386834135 | 1.000 | 0.120 | 8 | 1780339 | inframe deletion | TGG/- | delins | 1 | |||
| rs386834136 | 1.000 | 0.120 | 8 | 1780367 | missense variant | G/A | snv | 4.4E-05 | 3.5E-05 | 1 | |
| rs746645358 | 1.000 | 0.120 | 8 | 1780415 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 1 | |
| rs746397087 | 1.000 | 0.120 | 8 | 1780469 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
| rs386834138 | 1.000 | 0.120 | 8 | 1780472 | missense variant | C/G | snv | 1 | |||
| rs28940569 | 1.000 | 0.120 | 8 | 1780495 | missense variant | G/C | snv | 1 | |||
| rs587779411 | 0.851 | 0.160 | 8 | 1780498 | missense variant | C/G;T | snv | 4.0E-06 | 5 | ||
| rs139003032 | 1.000 | 0.120 | 8 | 1780512 | missense variant | A/G;T | snv | 2.0E-05; 3.3E-04 | 1 |