| 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 | |||
| rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
| rs864309483 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 9 | |||
| rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
| rs1555745467 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 23 | |||
| rs782316919 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 9 | ||
| rs781934508 | 1.000 | 0.080 | 9 | 133352441 | splice region variant | C/A;T | snv | 2.4E-05 | 4 | ||
| rs797045055 | 1.000 | 0.080 | MT | 14597 | missense variant | A/G | snv | 2 | |||
| rs1561904557 | 0.851 | 0.160 | 5 | 150056050 | missense variant | GGAT/TGCC | mnv | 9 | |||
| rs2516839 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 14 | ||
| rs387906686 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 23 | |||
| rs770703007 | 0.851 | 0.120 | 16 | 1706450 | stop gained | C/G;T | snv | 4.0E-06 | 8 | ||
| rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 26 | |||
| rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
| rs374263073 | 0.925 | 0.120 | 1 | 183222116 | missense variant | G/A;T | snv | 1.2E-05 | 3 | ||
| rs752298579 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 48 | |
| rs1553878395 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 5 | |||
| rs1555817157 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 16 | |||
| rs121918097 | 0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv | 10 | |||
| rs1114167423 | 0.882 | 0.240 | 9 | 32984704 | stop gained | T/A | snv | 6 | |||
| rs730882198 | 0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 | 6 | ||
| rs562740927 | 1.000 | 0.080 | 20 | 3910728 | missense variant | A/G | snv | 2.3E-04 | 4.9E-05 | 1 | |
| rs1158702707 | 1.000 | 0.080 | 22 | 39231710 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs1553630279 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 7 | |||
| rs63751243 | 0.882 | 0.160 | 17 | 44349190 | missense variant | C/A;T | snv | 4.0E-06 | 4 |