| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs121913578 | 0.851 | 0.280 | 1 | 236895470 | missense variant | C/T | snv | 6.4E-05 | 8.4E-05 | 5 | |
| rs121913579 | 1.000 | 0.080 | 1 | 236885202 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs121913580 | 1.000 | 0.080 | 1 | 236852578 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
| rs121913581 | 1.000 | 0.080 | 1 | 236897020 | stop gained | G/T | snv | 1 | |||
| rs121913582 | 1.000 | 0.080 | 1 | 236835586 | missense variant | G/C | snv | 7.1E-06 | 1 | ||
| rs797044443 | 1.000 | 0.080 | 1 | 236880799 | inframe deletion | AAT/- | delins | 1.4E-05 | 1 | ||
| rs797044444 | 1.000 | 0.080 | 1 | 236861192 | frameshift variant | TC/- | delins | 1 | |||
| rs797044445 | 1.000 | 0.080 | 1 | 236894530 | frameshift variant | -/A | delins | 1 |