| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs549625604 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 13 | ||
| rs1339432710 | 1.000 | 0.120 | 4 | 122742561 | frameshift variant | -/A | delins | 4.0E-06 | 1 | ||
| rs1166022838 | 0.925 | 0.120 | 11 | 66510675 | frameshift variant | -/C | delins | 4.0E-06 | 2 | ||
| rs1555202695 | 1.000 | 0.120 | 12 | 76347338 | frameshift variant | -/C | delins | 1 | |||
| rs1565287921 | 1.000 | 0.120 | 11 | 66526749 | frameshift variant | -/C | delins | 1 | |||
| rs113994196 | 1.000 | 0.120 | 20 | 10412638 | frameshift variant | -/CAGG | delins | 1 | |||
| rs1553794304 | 0.851 | 0.160 | 3 | 196707860 | stop gained | -/T | delins | 6 | |||
| rs886039798 | 0.925 | 0.120 | 11 | 66529902 | frameshift variant | -/T | delins | 4 | |||
| rs770872200 | 0.925 | 0.120 | 4 | 122742574 | frameshift variant | -/T | ins | 1.4E-05 | 2 | ||
| rs1565809478 | 1.000 | 0.120 | 12 | 76346308 | stop gained | -/T | delins | 1 | |||
| rs1553933472 | 1.000 | 0.120 | 4 | 121855547 | frameshift variant | -/TT | ins | 1 | |||
| rs1306231185 | 0.925 | 0.120 | 20 | 10407645 | stop gained | -/TTCA | delins | 4.0E-06 | 7.0E-06 | 2 | |
| rs113994189 | 0.925 | 0.120 | 15 | 72709480 | intron variant | A/- | delins | 2 | |||
| rs193922711 | 0.925 | 0.120 | 16 | 56497770 | frameshift variant | A/- | delins | 4.0E-06 | 2 | ||
| rs587777830 | 0.925 | 0.120 | 11 | 66523476 | frameshift variant | A/- | del | 2 | |||
| rs761101213 | 0.925 | 0.120 | 12 | 76347298 | frameshift variant | A/- | del | 2.0E-05 | 2.1E-05 | 2 | |
| rs1272140892 | 1.000 | 0.120 | 2 | 169482312 | frameshift variant | A/- | delins | 1 | |||
| rs1568662687 | 1.000 | 0.120 | 20 | 10405482 | frameshift variant | A/- | delins | 1 | |||
| rs759376012 | 1.000 | 0.120 | 9 | 116698849 | frameshift variant | A/- | delins | 1.6E-05 | 1 | ||
| rs886039797 | 0.807 | 0.280 | 16 | 56502807 | missense variant | A/C | snv | 4.0E-06 | 7 | ||
| rs121908174 | 0.925 | 0.120 | 16 | 56514574 | missense variant | A/C | snv | 4.0E-06 | 2 | ||
| rs515726134 | 0.925 | 0.120 | 10 | 110900466 | stop gained | A/C | snv | 7.2E-06 | 1.4E-05 | 2 | |
| rs1340165752 | 1.000 | 0.120 | 12 | 76346842 | stop gained | A/C | snv | 4.0E-06 | 1 | ||
| rs113994191 | 0.925 | 0.120 | 15 | 72722792 | splice acceptor variant | A/C;G | snv | 2 | |||
| rs370916293 | 1.000 | 0.120 | 7 | 33152855 | stop lost | A/C;G | snv | 4.0E-06 | 1 |