| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs372118787 | 1.000 | 0.160 | 5 | 13717403 | stop gained | C/T | snv | 1.6E-05 | 2.1E-05 | 2 | |
| rs373844629 | 1.000 | 0.160 | 7 | 21690844 | stop gained | C/T | snv | 8.1E-06 | 1.4E-05 | 2 | |
| rs376252276 | 1.000 | 0.160 | 9 | 34513112 | missense variant | G/A;C;T | snv | 7.6E-05; 4.0E-06; 4.0E-06 | 2 | ||
| rs387907092 | 1.000 | 0.120 | 17 | 80082020 | stop gained | C/A;T | snv | 4.0E-06 | 2 | ||
| rs397514561 | 1.000 | 7 | 780097 | missense variant | T/C | snv | 2 | ||||
| rs397514596 | 1.000 | 8 | 132656866 | missense variant | C/G | snv | 2.7E-05 | 7.0E-06 | 2 | ||
| rs397515363 | 1.000 | 0.160 | 9 | 34459054 | splice donor variant | -/T | delins | 2 | |||
| rs397515392 | 1.000 | 0.120 | 3 | 180661860 | splice donor variant | C/G | snv | 1.6E-04 | 7.0E-05 | 2 | |
| rs397515393 | 1.000 | 0.120 | 17 | 80039966 | frameshift variant | C/- | del | 4.4E-04 | 2.9E-04 | 2 | |
| rs397515424 | 1.000 | 8 | 132632794 | frameshift variant | TT/- | del | 2.0E-05 | 7.0E-06 | 2 | ||
| rs397515425 | 1.000 | 8 | 132632816 | frameshift variant | -/T | delins | 4.0E-06 | 2 | |||
| rs397515540 | 1.000 | 0.160 | 5 | 13753290 | frameshift variant | A/- | del | 1.6E-04 | 2.1E-04 | 2 | |
| rs397515541 | 1.000 | 0.160 | 5 | 13902053 | missense variant | C/G | snv | 2.2E-05 | 1.4E-05 | 2 | |
| rs397515563 | 1.000 | 0.160 | 9 | 34517468 | splice donor variant | G/A | snv | 4.0E-06 | 2 | ||
| rs397515621 | 1.000 | 15 | 55439557 | stop gained | G/A;C | snv | 1.2E-05 | 2 | |||
| rs548521732 | 1.000 | 0.160 | 5 | 13839530 | splice acceptor variant | T/C | snv | 4.0E-05 | 2.8E-05 | 2 | |
| rs571919972 | 1.000 | 0.160 | 5 | 13758881 | stop gained | G/A | snv | 5.2E-05 | 4.2E-05 | 2 | |
| rs587777635 | 1.000 | 21 | 42486455 | stop gained | C/T | snv | 2 | ||||
| rs587778819 | 1.000 | 0.160 | 17 | 80089876 | frameshift variant | -/CTGT;TGT | ins | 3.6E-05 | 2 | ||
| rs587778820 | 1.000 | 0.120 | 3 | 180619334 | frameshift variant | T/- | delins | 2.6E-05 | 1.4E-05 | 2 | |
| rs587778822 | 1.000 | 0.120 | 3 | 180651496 | frameshift variant | T/- | delins | 1.4E-05 | 2 | ||
| rs672601333 | 1.000 | 0.160 | 5 | 13894819 | frameshift variant | -/A | delins | 2 | |||
| rs745918507 | 1.000 | 0.160 | 5 | 13820424 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 2 | |
| rs752924362 | 1.000 | 0.160 | 17 | 74309345 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 | 2 | ||
| rs753614861 | 1.000 | 0.160 | 5 | 13830026 | missense variant | C/T | snv | 2.0E-05 | 5.6E-05 | 2 |