| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs242557 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 12 | ||
| rs758175953 | 0.827 | 0.240 | 17 | 17222500 | splice donor variant | C/A;G | snv | 1.6E-05 | 6 | ||
| rs879255678 | 0.827 | 0.240 | 17 | 17215188 | stop gained | G/A | snv | 7.0E-06 | 6 | ||
| rs368778627 | 0.882 | 0.120 | 17 | 17222501 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
| rs398124542 | 0.925 | 0.080 | 17 | 17219126 | frameshift variant | -/GTACTCTCTGGCAACACAGGGGCTTTCT | delins | 4.0E-05 | 3 | ||
| rs750146811 | 0.925 | 0.080 | 17 | 17227900 | frameshift variant | CGAC/- | delins | 1.2E-05 | 3 | ||
| rs786203218 | 0.925 | 0.080 | 17 | 17224069 | inframe deletion | AAG/- | delins | 4.0E-06 | 7.0E-06 | 3 | |
| rs137852929 | 0.925 | 0.080 | 17 | 17215228 | stop gained | G/A;C;T | snv | 6.0E-05 | 3 | ||
| rs80338682 | 0.925 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins | 3 | |||
| rs4733649 | 1.000 | 8 | 128785868 | intron variant | C/A | snv | 0.68 | 1 | |||
| rs886037609 | 1.000 | 17 | 17224136 | frameshift variant | G/- | delins | 1 | ||||
| rs1567807517 | 1.000 | 17 | 17215183 | splice donor variant | A/G | snv | 1 | ||||
| rs886037608 | 1.000 | 17 | 17214987 | frameshift variant | TCCA/- | delins | 1 | ||||
| rs886037610 | 1.000 | 17 | 17217070 | frameshift variant | GAAGTACTTCAAAAGCTGAC/- | delins | 1 | ||||
| rs375082054 | 1.000 | 17 | 17216395 | missense variant | G/A;C;T | snv | 6.9E-05; 8.2E-06; 1.6E-05 | 1 |