| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs727504421 | 0.882 | 0.160 | 3 | 30691465 | missense variant | G/A;T | snv | 3 | |||
| rs11466512 | 1.000 | 0.160 | 3 | 30671634 | splice region variant | T/A;C | snv | 0.30 | 1 | ||
| rs2276767 | 1.000 | 0.160 | 3 | 30691329 | intron variant | C/A | snv | 0.23 | 1 | ||
| rs876658120 | 1.000 | 0.160 | 3 | 30691437 | inframe deletion | ACGTTGACTGAG/- | delins | 1 | |||
| rs111854391 | 0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 | 18 | ||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs121918355 | 0.807 | 0.280 | 14 | 74555629 | stop gained | G/A;T | snv | 2.1E-05; 4.2E-06 | 7 | ||
| rs137854855 | 0.882 | 0.200 | 14 | 74551108 | stop gained | G/A;C | snv | 4.0E-06 | 3 | ||
| rs193922218 | 1.000 | 0.160 | 15 | 48644714 | missense variant | G/A | snv | 1 | |||
| rs397515785 | 1.000 | 0.160 | 15 | 48644728 | frameshift variant | TAAATCCCAGG/- | delins | 1 | |||
| rs199472823 | 0.851 | 0.240 | 11 | 2571328 | missense variant | T/C | snv | 5 | |||
| rs1057519321 | 0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv | 7 | |||
| rs1566944839 | 0.925 | 0.160 | 15 | 48644644 | frameshift variant | G/- | delins | 2 | |||
| rs730880097 | 0.925 | 0.160 | 15 | 48644769 | start lost | T/A;C;G | snv | 2 | |||
| rs886039072 | 0.925 | 0.160 | 15 | 48644767 | start lost | C/A;T | snv | 2 | |||
| rs1555407399 | 1.000 | 0.160 | 15 | 48644605 | frameshift variant | C/- | delins | 1 | |||
| rs1555407414 | 1.000 | 0.160 | 15 | 48644646 | frameshift variant | C/- | delins | 1 | |||
| rs1555407423 | 1.000 | 0.160 | 15 | 48644718 | frameshift variant | C/- | del | 1 | |||
| rs727503058 | 1.000 | 0.160 | 15 | 48644604 | splice donor variant | A/G;T | snv | 1 | |||
| rs794728213 | 1.000 | 0.160 | 15 | 48644605 | splice donor variant | C/A;T | snv | 1 | |||
| rs886041536 | 1.000 | 0.160 | 15 | 48644768 | start lost | A/C;G | snv | 1 | |||
| rs1232880706 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 36 | |||
| rs113871094 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 34 | |||
| rs137854466 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 23 | ||
| rs112550005 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 18 |