| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
| rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
| rs587776802 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 2 | |||
| rs121909776 | 1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 | 2 | |
| rs121909775 | 1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
| rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
| rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
| rs1342376116 | 1 | 26696438 | missense variant | G/T | snv | 1 | |||||
| rs121909144 | 10 | 3781852 | missense variant | G/A;T | snv | 1 | |||||
| rs28933369 | 0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv | 5 | |||
| rs121913228 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 14 | |||
| rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 23 | |||
| rs1057519836 | 3 | 41224630 | missense variant | A/C;G;T | snv | 2 | |||||
| rs1452231640 | 1.000 | 0.080 | 8 | 42339015 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
| rs1431341935 | 15 | 45023318 | frameshift variant | -/G | delins | 4.5E-06 | 1 | ||||
| rs121908383 | 1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv | 2 | |||
| rs1553125914 | 1.000 | 0.120 | 1 | 45331512 | frameshift variant | -/TC | delins | 2 | |||
| rs121908382 | 1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv | 2 | |||
| rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
| rs587781628 | 0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 | 5 | |
| rs140342925 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 5 | |
| rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
| rs372267274 | 0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv | 5 | |||
| rs587780088 | 0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 5 | ||
| rs1440200916 | 4 | 54258803 | missense variant | G/C;T | snv | 2 |