| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
| rs1057518796 | 1.000 | 6 | 33443751 | frameshift variant | C/- | delins | 3 | ||||
| rs149595793 | 1.000 | X | 70492544 | missense variant | G/A | snv | 3.3E-05 | 6.6E-05 | 3 | ||
| rs774214806 | 1.000 | 6 | 146159536 | stop gained | C/A;T | snv | 1.6E-05 | 2 | |||
| rs1554943158 | 0.882 | 0.040 | 11 | 681045 | inframe deletion | CTT/- | delins | 6 | |||
| rs1555889162 | 0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv | 6 | |||
| rs375244209 | 1.000 | 0.040 | 7 | 76302870 | missense variant | G/A | snv | 1.1E-05 | 2 | ||
| rs755221106 | 0.851 | 0.040 | 17 | 50617560 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
| rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
| rs754081544 | 0.925 | 0.080 | 10 | 100988947 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 5 | |
| rs531630376 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 4 | ||
| rs781934508 | 1.000 | 0.080 | 9 | 133352441 | splice region variant | C/A;T | snv | 2.4E-05 | 4 | ||
| rs58982919 | 0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv | 3 | |||
| rs879253798 | 1.000 | 0.080 | 16 | 89524099 | frameshift variant | TC/- | delins | 3 | |||
| rs750959420 | 1.000 | 0.080 | 9 | 132311820 | frameshift variant | CTCT/-;CT | delins | 4.0E-06; 2.4E-05 | 3.5E-05 | 2 | |
| rs121908214 | 0.925 | 0.080 | 19 | 13230185 | missense variant | T/G | snv | 1 | |||
| rs121908230 | 0.882 | 0.080 | 19 | 13262789 | missense variant | C/T | snv | 1 | |||
| rs121918514 | 0.925 | 0.080 | 19 | 53889705 | missense variant | G/A | snv | 1 | |||
| rs121918518 | 1.000 | 0.080 | 19 | 53889655 | missense variant | C/G | snv | 1 | |||
| rs28933381 | 0.925 | 0.080 | 12 | 4912102 | missense variant | G/C | snv | 1 | |||
| rs397514749 | 1.000 | 0.080 | 11 | 66707731 | missense variant | G/A | snv | 1 | |||
| rs587777004 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
| rs771578775 | 1.000 | 0.080 | 1 | 226982996 | stop gained | C/T | snv | 4.5E-05 | 5.6E-05 | 1 | |
| rs753635972 | 0.790 | 0.120 | 15 | 79845388 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 15 | |
| rs771379232 | 0.790 | 0.120 | 15 | 79845338 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 15 |