| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs28933379 | 1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv | 1 | |||
| rs121909776 | 1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 | 1 | |
| rs121912469 | 1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv | 1 | |||
| rs121909144 | 10 | 3781852 | missense variant | G/A;T | snv | 1 | |||||
| rs121908382 | 1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv | 1 | |||
| rs121908383 | 1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv | 1 | |||
| rs149633775 | 1.000 | 0.120 | 17 | 7673773 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 | 1 | ||
| rs137854571 | 1.000 | 0.120 | 5 | 112838793 | stop gained | C/T | snv | 2 | |||
| rs121909775 | 1.000 | 0.120 | 2 | 201205929 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
| rs1057519836 | 3 | 41224630 | missense variant | A/C;G;T | snv | 2 | |||||
| rs1057519803 | 0.925 | 0.080 | 12 | 56088138 | missense variant | G/A | snv | 2 | |||
| rs1553125914 | 1.000 | 0.120 | 1 | 45331512 | frameshift variant | -/TC | delins | 2 | |||
| rs587776802 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 2 | |||
| rs121918505 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 3 | |||
| rs28933369 | 0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv | 3 | |||
| rs1554085355 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 5 | |||
| rs1057519891 | 0.851 | 0.160 | 12 | 56088557 | missense variant | G/A;T | snv | 4.0E-06 | 5 | ||
| rs140342925 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 5 | |
| 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 | ||
| rs587781628 | 0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 | 5 | |
| rs876660765 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 6 | |||
| rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 | ||
| rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 7 | |||
| rs587781392 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 7 |