| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
| rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 13 | |
| rs137852834 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 12 | |
| rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 11 | |
| rs886039813 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 8 | |||
| rs771454167 | 0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 | 6 | |
| rs34557412 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 6 | |
| rs530391015 | 0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 | 5 | ||
| rs118203478 | 0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins | 5 | |||
| rs1555487316 | 0.882 | 0.240 | 16 | 20348247 | missense variant | A/C | snv | 5 | |||
| rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 4 | |
| rs1569492161 | 0.882 | 0.280 | X | 108586729 | missense variant | G/C | snv | 4 | |||
| rs17319721 | 0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 | 4 | ||
| rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 4 | ||
| rs61747728 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 3 | |
| rs1553948516 | 0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins | 3 | |||
| rs777919630 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 2 | ||
| rs1617640 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 2 | |||
| rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 2 | |
| rs1567202189 | 1.000 | 0.080 | 16 | 2111276 | inframe insertion | -/GTG | ins | 2 | |||
| rs7582694 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 2 | ||
| rs74315289 | 0.827 | 0.280 | 1 | 54999325 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 | 1 | |
| rs281874657 | 0.925 | 0.160 | X | 108586717 | stop gained | C/T | snv | 1 | |||
| rs138207257 | 0.925 | 0.160 | 10 | 97611535 | missense variant | G/A;T | snv | 2.0E-05; 1.1E-04 | 1 | ||
| rs202047589 | 0.925 | 0.160 | 10 | 97599780 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 | 1 |