| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
| rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
| rs1553200431 | 0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins | 8 | |||
| rs1057518799 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 7 | |||
| rs876657731 | 0.807 | 0.200 | 1 | 216073096 | splice donor variant | C/T | snv | 1.2E-05 | 6 | ||
| rs4373767 | 0.882 | 0.040 | 1 | 219586340 | regulatory region variant | C/T | snv | 0.32 | 4 | ||
| rs1556867 | 1.000 | 0.040 | 1 | 164244449 | intergenic variant | C/T | snv | 0.24 | 1 | ||
| rs2808510 | 1.000 | 0.040 | 1 | 200366947 | non coding transcript exon variant | C/T | snv | 0.29 | 1 | ||
| rs479445 | 1.000 | 0.040 | 1 | 60875960 | intron variant | T/A | snv | 0.31 | 1 | ||
| rs748448196 | 1.000 | 0.040 | 1 | 90939337 | missense variant | T/C | snv | 1 | |||
| rs543860009 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 33 | |||
| rs878854378 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 33 | |||
| rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
| rs569681869 | 0.925 | 0.040 | 2 | 227059468 | missense variant | C/G | snv | 7.2E-05 | 3.5E-05 | 6 | |
| rs533297350 | 1.000 | 0.040 | 2 | 227010441 | missense variant | C/T | snv | 7.2E-05 | 3.5E-05 | 5 | |
| rs13382811 | 0.882 | 0.040 | 2 | 144466053 | intron variant | C/T | snv | 0.21 | 4 | ||
| rs17400325 | 1.000 | 0.040 | 2 | 177701185 | missense variant | T/C | snv | 3.2E-02 | 2.8E-02 | 2 | |
| rs1550094 | 1.000 | 0.040 | 2 | 232520686 | missense variant | G/A | snv | 0.72 | 0.64 | 1 | |
| rs17428076 | 1.000 | 0.040 | 2 | 171987022 | intron variant | C/G | snv | 0.18 | 1 | ||
| rs2342406 | 1.000 | 0.040 | 2 | 44925609 | intron variant | T/C | snv | 0.19 | 1 | ||
| rs297589 | 1.000 | 0.040 | 2 | 156502238 | intron variant | T/A | snv | 0.65 | 1 | ||
| rs61049169 | 1.000 | 0.040 | 2 | 146131140 | intergenic variant | G/A;C | snv | 1 | |||
| rs669676 | 1.000 | 0.040 | 3 | 99730008 | intron variant | A/G | snv | 0.45 | 2 | ||
| rs9866391 | 1.000 | 0.040 | 3 | 141357242 | intron variant | T/C | snv | 0.41 | 2 | ||
| rs10936538 | 1.000 | 0.040 | 3 | 167439281 | downstream gene variant | C/A;T | snv | 1 |