| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs199867882 | 1.000 | 0.080 | 3 | 101231117 | stop gained | G/A | snv | 3.6E-05 | 1.4E-05 | 1 | |
| rs754995805 | 1.000 | 0.080 | 3 | 101232983 | splice region variant | -/TTCATCACCTAAAA | delins | 1.6E-05 | 4.2E-05 | 1 | |
| rs770339774 | 1.000 | 0.080 | 3 | 101242782 | frameshift variant | G/- | del | 1 | |||
| rs1553681348 | 1.000 | 0.080 | 3 | 101243905 | stop gained | C/T | snv | 1 | |||
| rs786205564 | 1.000 | 0.080 | 3 | 101244057 | stop gained | C/T | snv | 1 | |||
| rs267606874 | 0.925 | 0.080 | 3 | 101275694 | stop gained | G/C | snv | 2 | |||
| rs201893545 | 0.925 | 0.080 | 3 | 101304277 | missense variant | A/G | snv | 6.4E-05 | 4.2E-05 | 2 | |
| rs1553687058 | 1.000 | 0.080 | 3 | 101319800 | stop gained | C/A | snv | 1 | |||
| rs912923677 | 0.851 | 0.240 | 20 | 10407704 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
| rs527236107 | 1.000 | 0.080 | 8 | 10612126 | stop gained | G/A | snv | 2.4E-05 | 1.4E-05 | 1 | |
| rs377269054 | 1.000 | 0.080 | 8 | 10622967 | missense variant | G/A | snv | 1.4E-04 | 8.4E-05 | 1 | |
| rs527236080 | 1.000 | 0.080 | 6 | 10803830 | missense variant | C/T | snv | 8.0E-06 | 1 | ||
| rs387906648 | 0.925 | 0.080 | 6 | 10803886 | missense variant | C/T | snv | 2.1E-05 | 2 | ||
| rs527236081 | 1.000 | 0.080 | 6 | 10803887 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
| rs527236082 | 1.000 | 0.080 | 6 | 10813661 | frameshift variant | -/C | delins | 1.2E-05; 4.0E-06 | 1 | ||
| rs104895317 | 0.851 | 0.280 | 12 | 109595142 | missense variant | G/A | snv | 9.6E-05 | 6.3E-05 | 3 | |
| rs527236083 | 1.000 | 0.080 | 2 | 111929283 | frameshift variant | A/- | del | 1.4E-05 | 1 | ||
| rs541717028 | 0.925 | 0.080 | 2 | 112019497 | stop gained | C/T | snv | 8.0E-06 | 4.2E-05 | 1 | |
| rs746238212 | 1.000 | 0.080 | 2 | 112019512 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 1 | ||
| rs878853354 | 1.000 | 0.080 | 2 | 112019513 | missense variant | G/A | snv | 1 | |||
| rs41296057 | 0.925 | 0.080 | 9 | 113283400 | missense variant | G/A | snv | 2.1E-05 | 1 | ||
| rs587777599 | 0.925 | 0.080 | 9 | 113288183 | missense variant | C/T | snv | 8.0E-06 | 1 | ||
| rs398123538 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 6 | |
| rs140630401 | 1.000 | 0.080 | 3 | 121772683 | missense variant | C/T | snv | 1.1E-03 | 1.4E-03 | 1 | |
| rs752762669 | 0.925 | 0.120 | 4 | 122743422 | inframe deletion | CAGATGCAA/- | delins | 4.0E-05 | 8.4E-05 | 2 |