| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057516366 | 1.000 | 0.120 | 11 | 6617052 | frameshift variant | -/A | delins | 1 | |||
| rs1554902085 | 1.000 | 0.120 | 11 | 6617648 | frameshift variant | -/A | delins | 1 | |||
| rs1554901580 | 1.000 | 0.120 | 11 | 6615251 | inframe insertion | -/CGGCCACTGGCA | delins | 1 | |||
| rs1057516579 | 1.000 | 0.120 | 11 | 6614576 | frameshift variant | -/G | delins | 1 | |||
| rs1554902043 | 1.000 | 0.120 | 11 | 6617386 | stop gained | -/T | delins | 1 | |||
| rs1554901898 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 12 | |||
| rs1554902217 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 7 | |||
| rs1057516945 | 0.925 | 0.160 | 11 | 6616973 | splice donor variant | A/C | snv | 2 | |||
| rs119455953 | 1.000 | 0.120 | 11 | 6616057 | missense variant | A/G | snv | 7.0E-06 | 1 | ||
| rs1218678626 | 1.000 | 0.120 | 11 | 6617037 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs1554902028 | 1.000 | 0.120 | 11 | 6617352 | splice donor variant | A/G | snv | 1 | |||
| rs202189057 | 0.925 | 0.120 | 11 | 6617695 | stop gained | A/T | snv | 4.0E-06 | 2 | ||
| rs121908196 | 1.000 | 0.120 | 11 | 6616687 | missense variant | A/T | snv | 1 | |||
| rs121908198 | 1.000 | 0.120 | 11 | 6615554 | missense variant | A/T | snv | 1 | |||
| rs878855331 | 0.925 | 0.120 | 11 | 6617319 | splice donor variant | AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- | delins | 5 | |||
| rs1554902216 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 2 | |||
| rs886041487 | 1.000 | 0.120 | 11 | 6616451 | frameshift variant | AT/- | del | 1 | |||
| rs1057516264 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 13 | |||
| rs119455957 | 0.882 | 0.120 | 11 | 6616696 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs869025274 | 1.000 | 0.120 | 11 | 6617353 | splice donor variant | C/A;G | snv | 1 | |||
| rs56144125 | 0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 | 6 | ||
| rs786204553 | 1.000 | 0.120 | 11 | 6614865 | splice donor variant | C/A;G;T | snv | 1 | |||
| rs121908204 | 1.000 | 0.120 | 11 | 6617626 | missense variant | C/A;T | snv | 1.2E-05 | 1 | ||
| rs121908200 | 0.925 | 0.120 | 11 | 6615442 | missense variant | C/G | snv | 2.0E-05 | 2.1E-05 | 2 | |
| rs121908208 | 1.000 | 0.120 | 11 | 6614973 | missense variant | C/G | snv | 1 |