| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs137853197 | 0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 | 3 | |
| rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 42 | ||
| rs777602537 | 2 | 178576614 | stop gained | G/A;T | snv | 5.6E-05 | 1 | ||||
| rs397516695 | 0.882 | 0.040 | 2 | 219418869 | missense variant | T/A;C | snv | 5.5E-05 | 1 | ||
| rs368200299 | 2 | 178620285 | stop gained | G/A;T | snv | 4.9E-06 | 2 | ||||
| rs397517497 | 1.000 | 0.120 | 2 | 178790707 | splice donor variant | C/T | snv | 4.8E-05 | 5.6E-05 | 2 | |
| rs397517735 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 4 | |
| rs727505319 | 0.925 | 0.160 | 2 | 178542263 | splice donor variant | C/G;T | snv | 4.2E-06 | 4 | ||
| rs727504535 | 0.925 | 0.160 | 2 | 178538835 | frameshift variant | T/- | delins | 4.2E-06 | 3 | ||
| rs45546039 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 10 | ||
| rs869312070 | 0.925 | 0.160 | 2 | 178613938 | splice acceptor variant | C/T | snv | 4.1E-06 | 3 | ||
| rs397517626 | 1.000 | 0.040 | 2 | 178598977 | frameshift variant | -/T | delins | 4.1E-06 | 7.0E-06 | 2 | |
| rs397517587 | 2 | 178618768 | stop gained | G/A;T | snv | 4.1E-05 | 1 | ||||
| rs763824247 | 2 | 178583706 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||||
| rs869312055 | 2 | 178590794 | stop gained | G/A | snv | 4.0E-06 | 1 | ||||
| rs774604740 | 1.000 | 0.040 | 2 | 178570016 | frameshift variant | -/T | delins | 4.0E-06 | 2 | ||
| rs199473153 | 0.882 | 0.120 | 3 | 38597737 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||
| rs397517664 | 2 | 178581650 | stop gained | G/T | snv | 4.0E-06 | 1 | ||||
| rs397517601 | 2 | 178611611 | stop gained | C/T | snv | 4.0E-06 | 1 | ||||
| rs397517679 | 2 | 178576783 | frameshift variant | CTT/-;CTTTCTT | delins | 4.0E-06 | 1 | ||||
| rs371678190 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 3 | ||
| rs759231562 | 2 | 178607114 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||||
| rs794729285 | 1.000 | 0.040 | 2 | 178571794 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs397517830 | 2 | 178741025 | stop gained | C/A;T | snv | 4.0E-06 | 1 | ||||
| rs771562210 | 2 | 178630240 | splice donor variant | C/A;T | snv | 4.0E-06 | 1 |