| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1060503764 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 4 | |||
| rs1560417673 | 4 | 54727489 | inframe insertion | -/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT | delins | 1 | |||||
| rs1560417642 | 4 | 54727482 | protein altering variant | -/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA | delins | 1 | |||||
| rs587776794 | 4 | 54274863 | protein altering variant | -/AGAGGG | delins | 1 | |||||
| rs1553176976 | 0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins | 3 | |||
| rs1553176979 | 0.925 | 0.080 | 1 | 17018938 | frameshift variant | -/C | ins | 3 | |||
| rs1557738304 | 0.925 | 0.080 | 1 | 17018943 | frameshift variant | -/C | delins | 3 | |||
| rs1557741425 | 0.925 | 0.080 | 1 | 17028623 | frameshift variant | -/C | delins | 3 | |||
| rs1560417666 | 4 | 54727488 | protein altering variant | -/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC | delins | 1 | |||||
| rs1209914140 | 0.925 | 0.080 | 1 | 17022687 | frameshift variant | -/CGCCTCTGTGAAG | delins | 4.0E-06 | 3 | ||
| rs794728947 | 0.925 | 0.080 | 1 | 17033135 | frameshift variant | -/G | delins | 4.0E-06 | 4 | ||
| rs1553887262 | 4 | 54695552 | frameshift variant | -/T | ins | 1 | |||||
| rs878854572 | 0.925 | 0.080 | 1 | 17044835 | frameshift variant | A/- | delins | 3 | |||
| rs1560395607 | 4 | 54698334 | frameshift variant | A/- | delins | 1 | |||||
| rs786201095 | 0.827 | 0.160 | 1 | 17028643 | missense variant | A/C | snv | 1.2E-05 | 7 | ||
| rs1060503763 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 3 | |||
| rs121913512 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 9 | |||
| rs917411291 | 0.851 | 0.360 | 19 | 544072 | start lost | A/C;G | snv | 9 | |||
| rs1057520031 | 1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv | 2 | |||
| rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
| rs993022333 | 0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv | 5 | |||
| rs786202732 | 0.882 | 0.080 | 1 | 17024041 | missense variant | A/G | snv | 5 | |||
| rs1312268347 | 0.925 | 0.120 | 9 | 133734172 | start lost | A/G | snv | 5.0E-06 | 4 | ||
| rs1557739966 | 0.925 | 0.080 | 1 | 17024017 | missense variant | A/G | snv | 3 | |||
| rs755235380 | 1.000 | 0.080 | 1 | 161314406 | start lost | A/G | snv | 4.0E-06 | 1.4E-05 | 3 |