Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
| rs397514032 | 1.000 | 0.080 | 5 | 112828923 | frameshift variant | A/- | delins | 1 |