| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs557312035 | 0.925 | 0.160 | 2 | 178564811 | stop gained | G/A;C;T | snv | 8.1E-06 | 3 | ||
| rs775186117 | 0.925 | 0.160 | 2 | 178617393 | stop gained | G/A | snv | 3 | |||
| rs878854324 | 0.925 | 0.160 | 2 | 178589804 | stop gained | G/A;T | snv | 4.0E-06 | 3 | ||
| rs1553644307 | 0.925 | 0.160 | 2 | 178591418 | stop gained | T/A | snv | 3 | |||
| rs761807131 | 0.882 | 0.160 | 2 | 178610089 | splice donor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
| rs1559598775 | 0.882 | 0.200 | 2 | 178592056 | stop gained | G/A | snv | 3 | |||
| rs727504799 | 2 | 178609683 | splice donor variant | C/G | snv | 2 | |||||
| rs267607155 | 0.925 | 0.040 | 2 | 178782980 | missense variant | A/G;T | snv | 2 | |||
| rs869312122 | 1.000 | 0.120 | 2 | 178535516 | frameshift variant | -/A | ins | 2 | |||
| rs869312028 | 1.000 | 0.040 | 2 | 178557546 | frameshift variant | C/- | delins | 2 | |||
| rs140743001 | 1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 | 2 | |
| rs869312054 | 2 | 178593566 | splice donor variant | A/G | snv | 1.4E-05 | 2 | ||||
| rs1553603152 | 1.000 | 0.040 | 2 | 178570586 | stop gained | G/T | snv | 2 | |||
| rs727503559 | 1.000 | 0.040 | 2 | 178565120 | frameshift variant | TGGCAGCCACCAGTAT/- | delins | 2 | |||
| rs397517626 | 1.000 | 0.040 | 2 | 178598977 | frameshift variant | -/T | delins | 4.1E-06 | 7.0E-06 | 2 | |
| rs397517497 | 1.000 | 0.120 | 2 | 178790707 | splice donor variant | C/T | snv | 4.8E-05 | 5.6E-05 | 2 | |
| rs397517547 | 1.000 | 0.120 | 2 | 178782872 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs869312065 | 1.000 | 0.080 | 2 | 178548943 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs876657670 | 2 | 178560622 | stop gained | C/A;T | snv | 2 | |||||
| rs869312119 | 1.000 | 0.040 | 2 | 178561756 | stop gained | G/A | snv | 2 | |||
| rs774604740 | 1.000 | 0.040 | 2 | 178570016 | frameshift variant | -/T | delins | 4.0E-06 | 2 | ||
| rs1553742630 | 1.000 | 0.080 | 2 | 178633900 | frameshift variant | -/C | ins | 2 | |||
| rs397517481 | 1.000 | 0.040 | 2 | 178734327 | splice donor variant | C/A;T | snv | 4.3E-06 | 2 | ||
| rs777425925 | 0.925 | 0.160 | 2 | 178586549 | stop gained | A/T | snv | 4.0E-06 | 2 | ||
| rs1553649122 | 0.925 | 0.160 | 2 | 178593334 | stop gained | C/T | snv | 2 |