| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs34238807 | 1.000 | 0.120 | 8 | 1771116 | frameshift variant | G/-;GG | delins | 4.0E-06 | 1 | ||
| rs386834124 | 0.925 | 0.120 | 8 | 1771263 | missense variant | G/A | snv | 2.8E-05 | 1.4E-05 | 4 | |
| rs1554449124 | 1.000 | 0.120 | 8 | 1771360 | stop gained | G/A | snv | 1 | |||
| rs1554449136 | 1.000 | 0.120 | 8 | 1771366 | stop gained | G/A | snv | 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 | |
| rs137852883 | 1.000 | 0.120 | 8 | 1771142 | missense variant | G/A;C;T | snv | 4.0E-06; 2.4E-05 | 1 | ||
| rs386834134 | 1.000 | 0.120 | 8 | 1780317 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
| rs28940569 | 1.000 | 0.120 | 8 | 1780495 | missense variant | G/C | snv | 1 | |||
| rs144495588 | 0.925 | 0.120 | 8 | 1771553 | stop gained | G/C;T | snv | 8.0E-06; 1.2E-05 | 2 | ||
| rs756267448 | 1.000 | 0.120 | 8 | 1771598 | splice donor variant | G/T | snv | 4.0E-06 | 2.1E-05 | 1 | |
| rs1057516867 | 1.000 | 0.120 | 8 | 1771101 | frameshift variant | T/- | del | 1 | |||
| rs1554451504 | 1.000 | 0.120 | 8 | 1780299 | frameshift variant | T/- | delins | 1 | |||
| rs554042394 | 1.000 | 0.120 | 8 | 1771452 | stop gained | T/A;G | snv | 1.2E-05 | 1 | ||
| rs1554448874 | 1.000 | 0.120 | 8 | 1771056 | start lost | T/C | snv | 1 | |||
| rs386834126 | 1.000 | 0.120 | 8 | 1771374 | missense variant | T/G | snv | 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 |