| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057518813 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 8 | |||
| rs397514513 | 0.882 | 0.080 | 4 | 107945426 | missense variant | A/T | snv | 4 | |||
| rs759033144 | 1.000 | 0.080 | 4 | 107947399 | frameshift variant | AG/- | delins | 1.2E-05 | 2.1E-05 | 1 | |
| rs772400670 | 0.925 | 0.080 | 4 | 107947417 | stop gained | C/A;G;T | snv | 8.0E-06; 1.2E-05; 1.2E-05 | 3 | ||
| rs730882207 | 0.925 | 0.160 | 5 | 112204453 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 2 | |
| rs863223926 | 0.925 | 0.080 | 12 | 123253769 | frameshift variant | -/ATCC | delins | 2 | |||
| rs1085307110 | 0.925 | 0.120 | 3 | 134650909 | frameshift variant | -/ATGTCGATAGATACAGCACATGTCGATA | ins | 3 | |||
| rs1331505548 | 0.925 | 0.200 | 2 | 148949891 | missense variant | A/G | snv | 2 | |||
| rs398123108 | 0.925 | 0.200 | X | 153743211 | intron variant | G/A;T | snv | 3 | |||
| rs1557090220 | 1.000 | 0.080 | X | 153864820 | splice donor variant | C/G | snv | 1 | |||
| rs886039410 | 1.000 | 0.080 | X | 153865707 | stop gained | G/T | snv | 1 | |||
| rs1557091278 | 1.000 | 0.080 | X | 153867355 | splice donor variant | C/T | snv | 1 | |||
| rs1569544723 | 1.000 | 0.080 | X | 153867479 | stop gained | G/A | snv | 1 | |||
| rs863224494 | 1.000 | 0.080 | X | 153867800 | stop gained | T/A | snv | 1 | |||
| rs137852520 | 0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv | 4 | |||
| rs1557092248 | 1.000 | 0.080 | X | 153869520 | stop gained | G/A | snv | 1 | |||
| rs137852524 | 0.882 | 0.200 | X | 153869818 | missense variant | C/T | snv | 3 | |||
| rs886039405 | 1.000 | 0.080 | X | 153870246 | splice region variant | C/T | snv | 1 | |||
| rs1569544908 | 1.000 | 0.080 | X | 153872147 | splice region variant | C/T | snv | 1 | |||
| rs66864704 | 0.882 | 0.280 | 16 | 16188907 | missense variant | A/G | snv | 1.2E-04 | 3.6E-04 | 10 | |
| rs767350733 | 0.882 | 0.120 | 2 | 201724392 | stop gained | G/A | snv | 2.0E-05 | 7 | ||
| rs104894490 | 0.827 | 0.240 | 15 | 22812252 | missense variant | G/A;C | snv | 5 | |||
| rs587776888 | 0.925 | 0.160 | 1 | 228149860 | upstream gene variant | A/G | snv | 2 | |||
| rs1558119445 | 1.000 | 0.080 | 1 | 228157841 | frameshift variant | -/AC | delins | 1 | |||
| rs1553262438 | 1.000 | 0.080 | 1 | 228157899 | stop gained | C/G | snv | 1 |