| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs113422242 | 0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 | 14 | ||
| rs281864996 | 0.807 | 0.280 | 12 | 101764363 | frameshift variant | CTTTT/-;CTTTTCTTTT | delins | 2.8E-05 | 7.0E-06 | 10 | |
| rs1566902569 | 0.882 | 0.160 | 15 | 48460299 | missense variant | C/A | snv | 9 | |||
| rs1555269154 | 0.851 | 0.280 | 12 | 101761307 | frameshift variant | -/CTTTGTGA | delins | 7 | |||
| rs1060499680 | 0.882 | 0.200 | 12 | 101768036 | splice donor variant | C/A;T | snv | 4.0E-06 | 6 | ||
| rs1060499681 | 0.882 | 0.200 | 12 | 101764303 | frameshift variant | C/- | del | 6 | |||
| rs751953529 | 0.882 | 0.200 | 12 | 101786012 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
| rs1060499685 | 0.882 | 0.160 | 12 | 101764547 | frameshift variant | AA/- | delins | 5 | |||
| rs1555271865 | 0.925 | 0.160 | 12 | 101786204 | frameshift variant | -/T | delins | 5 | |||
| rs546802775 | 0.851 | 0.240 | 12 | 101765329 | intron variant | TTT/-;TT;TTTT | delins | 5.1E-06 | 5 | ||
| rs750240374 | 0.882 | 0.240 | 12 | 101766103 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 5 | |
| rs1060499688 | 0.882 | 0.200 | 12 | 101753399 | missense variant | A/G | snv | 4 | |||
| rs1060499689 | 0.925 | 0.160 | 12 | 101753435 | missense variant | G/A | snv | 3 | |||
| rs786205448 | 1.000 | 0.040 | 1 | 156138563 | missense variant | G/A | snv | 7.0E-06 | 3 |