| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1400180 | 1.000 | 0.040 | 3 | 129285 | intron variant | T/G | snv | 0.37 | 1 | ||
| rs17326792 | 1.000 | 0.040 | 3 | 131073 | non coding transcript exon variant | A/G;T | snv | 1 | |||
| rs1878169 | 1.000 | 0.040 | 3 | 123429 | intron variant | A/T | snv | 0.32 | 1 | ||
| rs965084 | 1.000 | 0.040 | 3 | 125415 | intron variant | G/C | snv | 0.31 | 1 | ||
| rs9819101 | 1.000 | 0.040 | 3 | 124824 | intron variant | G/A;C | snv | 0.35 | 1 | ||
| rs1057518908 | 0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv | 6 | |||
| rs1569518070 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 33 | |||
| rs1057518789 | 0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv | 2 | |||
| rs1561892336 | 0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv | 13 | |||
| rs1561881909 | 0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins | 9 | |||
| rs1561898352 | 0.882 | 0.200 | 6 | 43052582 | frameshift variant | -/A | delins | 8 | |||
| rs1555682265 | 0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins | 5 | |||
| rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
| rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
| rs28937581 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 9 | ||
| rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
| rs1441937959 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 20 | ||
| rs281865136 | 0.882 | 0.120 | 10 | 62813562 | missense variant | C/T | snv | 3 | |||
| rs864622273 | 0.882 | 0.120 | 10 | 62813412 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
| rs869320624 | 0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 | 13 | ||
| rs140119177 | 0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 | 7 | |
| 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 |