| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554616802 | 1.000 | 0.080 | 8 | 115414484 | frameshift variant | T/- | del | 1 | |||
| rs121908434 | 1.000 | 0.080 | 8 | 115414593 | stop gained | G/C | snv | 1 | |||
| rs1554616950 | 1.000 | 0.080 | 8 | 115414768 | frameshift variant | G/- | delins | 1 | |||
| rs1554616971 | 1.000 | 0.080 | 8 | 115414831 | frameshift variant | C/- | del | 1 | |||
| rs1554617011 | 1.000 | 0.080 | 8 | 115414924 | frameshift variant | CTCT/- | delins | 1 | |||
| rs1563714392 | 1.000 | 0.080 | 8 | 115415008 | frameshift variant | -/AAGGCGCT | delins | 1 | |||
| rs28939070 | 0.925 | 0.160 | 8 | 115415014 | missense variant | C/T | snv | 2 | |||
| rs28939069 | 0.925 | 0.160 | 8 | 115415015 | missense variant | G/A | snv | 2 | |||
| rs1554617078 | 1.000 | 0.080 | 8 | 115415048 | frameshift variant | -/GTTTTGTT | delins | 1 | |||
| rs752405769 | 1.000 | 0.080 | 8 | 115415107 | intron variant | A/C;G | snv | 4.7E-06 | 1 | ||
| rs1554617549 | 1.000 | 0.080 | 8 | 115418329 | splice donor variant | C/A | snv | 1 | |||
| rs1554617561 | 1.000 | 0.080 | 8 | 115418352 | missense variant | C/A | snv | 1 | |||
| rs121908436 | 0.925 | 0.160 | 8 | 115418358 | missense variant | G/A | snv | 2 | |||
| rs1057518972 | 0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv | 6 | |||
| rs1554617567 | 1.000 | 0.080 | 8 | 115418369 | frameshift variant | -/G | ins | 1 | |||
| rs121908435 | 0.925 | 0.160 | 8 | 115418391 | missense variant | C/G;T | snv | 2 | |||
| rs751565386 | 0.925 | 0.160 | 8 | 115418392 | stop gained | G/A;T | snv | 8.0E-06 | 2 | ||
| rs1554617573 | 1.000 | 0.080 | 8 | 115418397 | missense variant | A/G | snv | 1 | |||
| rs121908433 | 1.000 | 0.160 | 8 | 115418413 | missense variant | T/G | snv | 1 | |||
| rs1554617580 | 1.000 | 0.080 | 8 | 115418421 | missense variant | T/C | snv | 1 | |||
| rs1554617581 | 1.000 | 0.080 | 8 | 115418422 | missense variant | T/A | snv | 1 | |||
| rs1554617582 | 0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins | 6 | |||
| rs1563623987 | 0.925 | 0.160 | 8 | 115587133 | stop gained | A/C | snv | 2 | |||
| rs121908432 | 1.000 | 0.080 | 8 | 115587144 | stop gained | G/A | snv | 1 | |||
| rs1554592981 | 1.000 | 0.080 | 8 | 115587306 | frameshift variant | -/G | delins | 1 |