| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs864309483 | 0.851 | 0.080 | 3 | 123352464 | missense variant | G/A | snv | 9 | |||
| rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
| rs1553878395 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 5 | |||
| 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 | |||
| rs1158702707 | 1.000 | 0.080 | 22 | 39231710 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
| rs562740927 | 1.000 | 0.080 | 20 | 3910728 | missense variant | A/G | snv | 2.3E-04 | 4.9E-05 | 1 | |
| rs768823392 | 0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 | 10 | |
| rs770703007 | 0.851 | 0.120 | 16 | 1706450 | stop gained | C/G;T | snv | 4.0E-06 | 8 | ||
| rs1555475794 | 0.925 | 0.120 | 16 | 682729 | 3 prime UTR variant | T/C | snv | 7 | |||
| rs63750009 | 0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv | 5 | |||
| rs869312880 | 0.882 | 0.120 | 2 | 86232624 | splice donor variant | C/T | snv | 5 | |||
| rs1057518936 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 3 | |||
| rs374263073 | 0.925 | 0.120 | 1 | 183222116 | missense variant | G/A;T | snv | 1.2E-05 | 3 | ||
| rs771744744 | 0.925 | 0.120 | 12 | 54182241 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
| rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 26 | |||
| rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
| rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
| rs142110773 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 13 | |
| rs1555507479 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 12 | |||
| rs1217391623 | 0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 | 11 | ||
| rs1561904557 | 0.851 | 0.160 | 5 | 150056050 | missense variant | GGAT/TGCC | mnv | 9 | |||
| rs782316919 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 9 | ||
| rs1553630279 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 7 | |||
| rs104894107 | 0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 | 6 |