| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
| rs35135520 | 0.827 | 0.200 | 19 | 39480879 | stop gained | C/A;G;T | snv | 3.1E-03; 4.6E-06 | 12 | ||
| rs776019250 | 0.827 | 0.200 | 19 | 39482885 | stop gained | G/C;T | snv | 4.0E-06 | 12 | ||
| rs1327062642 | 0.827 | 0.200 | 6 | 35509903 | frameshift variant | -/G | delins | 4.0E-06 | 11 | ||
| rs775796581 | 0.851 | 0.120 | 8 | 86666951 | frameshift variant | AGTCTGGG/- | delins | 5.2E-05 | 7.0E-05 | 5 | |
| rs751163782 | 0.882 | 0.040 | 4 | 13369888 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 5 | ||
| rs875989778 | 0.882 | 0.040 | 4 | 13479429 | splice donor variant | C/G | snv | 5 | |||
| rs397515508 | 0.925 | 0.160 | MT | 3700 | missense variant | G/A | snv | 4 | |||
| rs1057518922 | 0.925 | 0.200 | 1 | 68431281 | splice donor variant | C/A;T | snv | 1.6E-05 | 4 | ||
| rs552184470 | 1.000 | 0.080 | 17 | 8003171 | inframe deletion | TCTGCT/- | delins | 1.8E-03 | 1.9E-03 | 2 |