| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555473138 | 1.000 | 0.120 | 15 | 72353688 | splice donor variant | -/A | delins | 1 | |||
| rs587779407 | 1.000 | 0.120 | 15 | 72350604 | frameshift variant | -/A | ins | 1 | |||
| rs1555472161 | 1.000 | 0.120 | 15 | 72344117 | frameshift variant | -/G | delins | 1 | |||
| rs387906309 | 0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 | 10 | |
| rs1555472406 | 1.000 | 0.120 | 15 | 72346578 | frameshift variant | -/GGAT | delins | 1 | |||
| rs786204515 | 1.000 | 0.120 | 15 | 72349117 | stop gained | -/T | delins | 1 | |||
| rs1057517296 | 1.000 | 0.120 | 15 | 72375911 | frameshift variant | -/TC | delins | 1 | |||
| rs1057516850 | 1.000 | 0.120 | 15 | 72353173 | frameshift variant | A/- | delins | 1 | |||
| rs1057519458 | 1.000 | 0.120 | 15 | 72353724 | frameshift variant | A/- | delins | 1 | |||
| rs1567295184 | 1.000 | 0.120 | 15 | 72345473 | frameshift variant | A/- | delins | 1 | |||
| rs756040251 | 1.000 | 0.120 | 15 | 72349088 | frameshift variant | A/- | delins | 4.0E-06 | 1 | ||
| rs28940279 | 0.851 | 0.120 | 17 | 3499000 | missense variant | A/C | snv | 4.3E-04 | 2.7E-04 | 4 | |
| rs7840202 | 0.851 | 0.160 | 8 | 102296172 | intron variant | A/C | snv | 0.21 | 4 | ||
| rs121907975 | 1.000 | 0.120 | 15 | 72355591 | missense variant | A/C | snv | 1 | |||
| rs121907977 | 1.000 | 0.120 | 15 | 72349163 | missense variant | A/C | snv | 1.6E-05 | 7.0E-06 | 1 | |
| rs121907979 | 1.000 | 0.120 | 15 | 72375857 | missense variant | A/C | snv | 1 | |||
| rs10805890 | 0.851 | 0.120 | 5 | 74697056 | missense variant | A/G | snv | 0.16 | 0.13 | 4 | |
| rs28941771 | 0.925 | 0.120 | 15 | 72353100 | missense variant | A/G | snv | 2 | |||
| rs1057519461 | 1.000 | 0.120 | 15 | 72351168 | missense variant | A/G | snv | 1 | |||
| rs121907968 | 1.000 | 0.120 | 15 | 72345519 | missense variant | A/G | snv | 1 | |||
| rs121907974 | 1.000 | 0.120 | 15 | 72351173 | missense variant | A/G | snv | 1 | |||
| rs1555472262 | 1.000 | 0.120 | 15 | 72345444 | splice donor variant | A/G | snv | 1 | |||
| rs786204721 | 1.000 | 0.120 | 15 | 72375971 | start lost | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs1057517348 | 1.000 | 0.120 | 15 | 72375948 | frameshift variant | AA/- | delins | 1 | |||
| rs770628999 | 1.000 | 0.120 | 15 | 72375713 | splice donor variant | ACTCACCTGTGAGGTAAGGACGGG/- | delins | 8.0E-06 | 1 |