| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs773386777 | 1.000 | 0.160 | 12 | 88093977 | splice acceptor variant | T/C | snv | 6 | |||
| rs768663992 | 0.882 | 0.160 | 16 | 3508407 | missense variant | T/G | snv | 1.3E-05 | 4.2E-05 | 5 | |
| rs769705065 | 0.882 | 0.160 | 16 | 3520011 | stop gained | C/T | snv | 7.0E-06 | 5 | ||
| rs1569163423 | 1.000 | 0.160 | X | 13767272 | frameshift variant | -/T | delins | 2 | |||
| rs1569164733 | 1.000 | 0.160 | X | 13768093 | stop gained | G/T | snv | 2 | |||
| rs1569164829 | 1.000 | 0.160 | X | 13768111 | stop gained | G/T | snv | 2 | |||
| rs17089782 | 0.925 | 0.160 | 13 | 72835359 | missense variant | G/A | snv | 1.5E-02 | 7.7E-03 | 2 | |
| rs587777079 | 0.925 | 0.160 | 2 | 27447544 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 2 | |
| rs587777653 | 0.925 | 0.160 | 11 | 74168485 | stop gained | G/A | snv | 1.2E-05 | 2 | ||
| rs771170000 | 0.925 | 0.160 | 17 | 19360357 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 | 2 | |
| rs863225222 | 0.925 | 0.160 | 12 | 123671311 | frameshift variant | G/-;GG | delins | 2 | |||
| rs864309712 | 0.925 | 0.160 | 16 | 27749634 | stop gained | C/T | snv | 2 | |||
| rs1276908141 | 1.000 | 0.160 | 6 | 135433187 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||
| rs1431917892 | 1.000 | 0.160 | 9 | 136429688 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||
| rs150291837 | 1.000 | 0.160 | 11 | 74049431 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |
| rs1554208431 | 1.000 | 0.160 | 6 | 135453426 | frameshift variant | A/- | delins | 1 | |||
| rs1554214237 | 1.000 | 0.160 | 6 | 135463220 | frameshift variant | T/- | del | 1 | |||
| rs1554350503 | 1.000 | 0.160 | 6 | 135447109 | frameshift variant | -/T | delins | 1 | |||
| rs1555600644 | 1.000 | 0.160 | 17 | 58216280 | intron variant | ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA/- | del | 1 | |||
| rs1564430716 | 1.000 | 0.160 | 9 | 136429766 | stop gained | A/C | snv | 1 | |||
| rs1569102786 | 1.000 | 0.160 | X | 13736679 | splice donor variant | G/T | snv | 1 | |||
| rs1569128307 | 1.000 | 0.160 | X | 13749512 | frameshift variant | AA/- | delins | 1 | |||
| rs1569141500 | 1.000 | 0.160 | X | 13756669 | stop gained | C/G | snv | 1 | |||
| rs187433682 | 1.000 | 0.160 | 12 | 123694859 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
| rs201010803 | 1.000 | 0.160 | 12 | 123704670 | missense variant | T/A;C | snv | 2.0E-05; 4.0E-06 | 1 |