| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs370717845 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 33 | |||
| rs1057518644 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 10 | |||
| rs112029032 | 0.882 | 0.160 | 8 | 43199504 | missense variant | G/A | snv | 4.1E-03 | 3.6E-03 | 4 | |
| rs121908282 | 0.925 | 0.120 | 8 | 43173740 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 3 | |
| rs1563366896 | 0.882 | 0.120 | 8 | 43169216 | stop gained | C/T | snv | 3 | |||
| rs193066451 | 0.882 | 0.120 | 8 | 43159045 | splice donor variant | G/A | snv | 4.0E-05 | 1.3E-04 | 3 | |
| rs753355844 | 0.882 | 0.120 | 8 | 43193790 | missense variant | G/A | snv | 1.6E-05 | 3 | ||
| rs775078211 | 0.882 | 0.120 | 8 | 43191495 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-05 | 3 | ||
| rs1085307880 | 0.925 | 0.120 | 8 | 43170690 | frameshift variant | A/- | del | 2 | |||
| rs121908285 | 0.925 | 0.120 | 8 | 43182162 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 2 | |
| rs372933126 | 0.925 | 0.120 | 8 | 43178109 | stop gained | C/A;T | snv | 1.3E-04 | 2.1E-05 | 2 | |
| rs483352894 | 0.925 | 0.120 | 8 | 43192397 | frameshift variant | -/G | delins | 8.1E-06 | 2 | ||
| rs483352896 | 0.925 | 0.120 | 8 | 43158921 | splice acceptor variant | A/G | snv | 2.5E-05 | 2.1E-05 | 2 | |
| rs483352908 | 0.925 | 0.120 | 8 | 43147064 | splice donor variant | G/A | snv | 4.7E-05 | 1.4E-05 | 2 | |
| rs756310864 | 0.925 | 0.120 | 8 | 43197848 | missense variant | C/T | snv | 1.3E-04 | 3.5E-05 | 2 | |
| rs1085307112 | 1.000 | 0.120 | 8 | 43173728 | missense variant | A/C | snv | 1 | |||
| rs121908283 | 1.000 | 0.120 | 8 | 43178184 | stop gained | T/G | snv | 1 | |||
| rs121908284 | 1.000 | 0.120 | 8 | 43193824 | missense variant | T/A | snv | 7.0E-06 | 1 | ||
| rs121908286 | 1.000 | 0.120 | 8 | 43197682 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 1 | |
| rs1447092074 | 1.000 | 0.120 | 8 | 43178073 | splice acceptor variant | G/A | snv | 4.0E-06 | 1 | ||
| rs149596192 | 1.000 | 0.120 | 8 | 43140323 | upstream gene variant | G/A | snv | 1.6E-02 | 1 | ||
| rs1554526454 | 1.000 | 0.120 | 8 | 43140504 | frameshift variant | -/CG | delins | 1 | |||
| rs1554531744 | 1.000 | 0.120 | 8 | 43170691 | splice donor variant | G/- | delins | 1 | |||
| rs1554532283 | 1.000 | 0.120 | 8 | 43173744 | splice donor variant | G/A;T | snv | 1 | |||
| rs1554533211 | 1.000 | 0.120 | 8 | 43178169 | stop gained | G/A | snv | 1 |