| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1333049 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 60 | ||
| rs3812718 | 0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 | 8 | ||
| rs704180 | 0.807 | 0.240 | 12 | 21841177 | intron variant | A/G | snv | 0.55 | 6 | ||
| rs73069071 | 0.807 | 0.240 | 12 | 21357370 | intron variant | T/C | snv | 0.14 | 6 | ||
| rs786205243 | 0.925 | 0.080 | 8 | 41708992 | intron variant | C/T | snv | 2 | |||
| rs137852829 | 1.000 | 0.080 | 8 | 41672445 | stop gained | C/A;T | snv | 1 | |||
| rs137852830 | 1.000 | 0.080 | 8 | 41668498 | stop gained | C/T | snv | 1 | |||
| rs140085544 | 1.000 | 0.080 | 8 | 41716970 | missense variant | C/T | snv | 6.8E-04 | 1.0E-03 | 1 | |
| rs1554522035 | 1.000 | 0.080 | 8 | 41668509 | stop gained | G/A | snv | 1 | |||
| rs1554567249 | 1.000 | 0.080 | 8 | 41714256 | splice acceptor variant | T/G | snv | 1 | |||
| rs1554578304 | 1.000 | 0.080 | 8 | 41725839 | frameshift variant | G/- | del | 1 | |||
| rs1563502820 | 1.000 | 0.080 | 8 | 41706211 | stop gained | G/A | snv | 1 | |||
| rs397514029 | 1.000 | 0.080 | 8 | 41715734 | frameshift variant | -/G | delins | 1 | |||
| rs777701149 | 1.000 | 0.080 | 8 | 41684619 | stop gained | G/A | snv | 7.0E-06 | 1 | ||
| rs1554627073 | 1.000 | 0.080 | 8 | 41797538 | start lost | T/C | snv | 1 | |||
| rs137852831 | 1.000 | 0.080 | 8 | 41661923 | stop gained | G/A | snv | 7.0E-06 | 1 |