| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs267598596 | 0.827 | 0.120 | 1 | 40818164 | missense variant | G/A | snv | 5 | |||
| rs1060499603 | 0.882 | 0.040 | 8 | 71211239 | stop gained | C/A | snv | 3 | |||
| rs121909199 | 0.882 | 0.040 | 8 | 71216776 | missense variant | C/T | snv | 1.4E-04 | 1.4E-05 | 3 | |
| rs606231357 | 0.882 | 0.120 | 8 | 71271753 | splice region variant | C/T | snv | 3 | |||
| rs80358273 | 0.882 | 0.160 | 1 | 40818518 | missense variant | C/G | snv | 3.3E-04 | 1.1E-04 | 3 | |
| rs397517920 | 0.882 | 0.040 | 8 | 71199371 | missense variant | A/G | snv | 3 | |||
| rs104894478 | 0.882 | 0.160 | 14 | 60648804 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
| rs121909202 | 0.925 | 0.040 | 8 | 71244662 | stop gained | G/A;T | snv | 4.0E-06 | 2 | ||
| rs112340154 | 1.000 | 0.040 | 8 | 71215443 | missense variant | A/G | snv | 1 | |||
| rs1131691667 | 1.000 | 0.040 | 8 | 71271835 | stop gained | G/A | snv | 1 | |||
| rs121909195 | 1.000 | 0.040 | 8 | 71271802 | stop gained | G/A;C | snv | 4.0E-06 | 1 | ||
| rs121909196 | 1.000 | 0.040 | 8 | 71216733 | missense variant | C/T | snv | 1 | |||
| rs121909200 | 1.000 | 0.040 | 8 | 71215630 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs121909201 | 1.000 | 0.040 | 8 | 71215470 | missense variant | A/C | snv | 1 | |||
| rs1481254965 | 1.000 | 0.040 | 8 | 71211170 | stop gained | G/A;C | snv | 4.0E-06 | 2.1E-05 | 1 | |
| rs1554541834 | 1.000 | 0.040 | 8 | 71299175 | splice acceptor variant | GAGCTGTTATAATACTGTGCGTACTGACCCTGGCCAAAACTGGGATAAGACGGATAGTCCTACCAAATCAAACC/- | del | 1 | |||
| rs1554548840 | 1.000 | 0.040 | 8 | 71317576 | frameshift variant | C/- | delins | 1 | |||
| rs1554596461 | 1.000 | 0.040 | 8 | 71216722 | frameshift variant | CT/- | delins | 1 | |||
| rs1554615511 | 1.000 | 0.040 | 8 | 71269746 | stop gained | A/C | snv | 1 | |||
| rs1554615536 | 1.000 | 0.040 | 8 | 71269774 | frameshift variant | AGGA/- | delins | 1 | |||
| rs1563422304 | 1.000 | 0.040 | 8 | 71299191 | stop gained | G/A | snv | 1 | |||
| rs1563634200 | 1.000 | 0.040 | 8 | 71216853 | splice acceptor variant | C/T | snv | 1 | |||
| rs200164773 | 1.000 | 0.040 | 8 | 71322242 | stop gained | G/A;T | snv | 4.0E-06 | 1 | ||
| rs606231355 | 1.000 | 0.040 | 8 | 71211156 | frameshift variant | CTTT/- | del | 1 |