| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 48 | ||
| rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
| rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 35 | ||
| rs121913403 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 14 | |||
| rs121913228 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 11 | |||
| rs137854575 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 9 | ||
| rs137854573 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 8 | |||
| rs786201856 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 8 | |||
| rs145945630 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 7 | ||
| rs397515734 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 7 | |||
| rs587781392 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 7 | |||
| rs62619935 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 7 | ||
| rs863225311 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 7 | |||
| rs876660765 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 6 | |||
| rs1554085355 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 5 | |||
| rs587776802 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 2 |