| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||
| rs1057518813 | 0.790 | 0.240 | 13 | 102873305 | frameshift variant | CT/- | delins | 8 | |||
| rs770703007 | 0.851 | 0.120 | 16 | 1706450 | stop gained | C/G;T | snv | 4.0E-06 | 8 | ||
| rs1553630279 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 7 | |||
| rs1555475794 | 0.925 | 0.120 | 16 | 682729 | 3 prime UTR variant | T/C | snv | 7 | |||
| rs1114167423 | 0.882 | 0.240 | 9 | 32984704 | stop gained | T/A | snv | 6 | |||
| rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
| rs104894107 | 0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 | 6 | ||
| rs730882198 | 0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 | 6 | ||
| 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 | |||
| rs1553878395 | 0.925 | 0.080 | 4 | 25127263 | splice acceptor variant | AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- | delins | 5 | |||
| rs121918358 | 0.882 | 0.160 | 16 | 89510539 | stop gained | T/A | snv | 4.2E-04 | 1.8E-04 | 5 | |
| rs141659620 | 0.882 | 0.160 | 16 | 89531961 | missense variant | G/A;C | snv | 8.3E-04; 8.0E-06 | 5 | ||
| rs72547551 | 0.882 | 0.160 | 16 | 89550545 | missense variant | C/T | snv | 3.6E-05 | 1.5E-04 | 5 | |
| rs748309520 | 0.882 | 0.160 | 16 | 89531903 | splice acceptor variant | G/A | snv | 1.6E-05 | 7.0E-06 | 5 | |
| rs752989523 | 0.882 | 0.160 | 16 | 89553853 | stop gained | G/A;C | snv | 8.0E-06 | 5 | ||
| rs879253797 | 0.882 | 0.160 | 16 | 89556954 | missense variant | C/T | snv | 1.4E-05 | 5 | ||
| rs142157346 | 0.882 | 0.160 | 9 | 69053240 | missense variant | G/T | snv | 4 | |||
| rs63751243 | 0.882 | 0.160 | 17 | 44349190 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
| rs374434303 | 0.882 | 0.200 | 19 | 7561509 | missense variant | C/A;T | snv | 3.8E-05 | 4 | ||
| rs781934508 | 1.000 | 0.080 | 9 | 133352441 | splice region variant | C/A;T | snv | 2.4E-05 | 4 | ||
| rs374263073 | 0.925 | 0.120 | 1 | 183222116 | missense variant | G/A;T | snv | 1.2E-05 | 3 | ||
| rs1057518936 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 3 |