| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs869178171 | 0.790 | 0.200 | 2 | 178563475 | stop gained | C/A | snv | 7 | |||
| rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
| rs1553543413 | 0.807 | 0.200 | 2 | 178553783 | frameshift variant | -/T | delins | 6 | |||
| rs794729340 | 0.807 | 0.200 | 2 | 178570991 | frameshift variant | TCTT/- | delins | 6 | |||
| rs869312099 | 0.807 | 0.200 | 2 | 178738361 | splice acceptor variant | C/T | snv | 4.1E-06 | 1.4E-05 | 6 | |
| rs758537709 | 0.882 | 0.200 | 2 | 178549459 | missense variant | G/A | snv | 4.1E-05 | 7.7E-05 | 4 | |
| rs281864931 | 0.882 | 0.200 | 2 | 178527151 | missense variant | T/G | snv | 4 | |||
| rs281864927 | 0.882 | 0.160 | 2 | 178527198 | missense variant | CCATGTTACTT/TTTTTCTTTCA | mnv | 3 | |||
| rs281864930 | 0.925 | 0.120 | 2 | 178527099 | frameshift variant | T/- | delins | 2 | |||
| rs587780490 | 1.000 | 0.120 | 2 | 178776817 | stop gained | G/A | snv | 1 | |||
| rs587780494 | 1.000 | 0.120 | 2 | 178775155 | frameshift variant | -/TGTCTGTTTCCTTACA | ins | 1.6E-05 | 2.8E-05 | 1 | |
| rs267607156 | 1.000 | 0.120 | 2 | 178527121 | missense variant | A/G | snv | 1 | |||
| rs587780495 | 1.000 | 0.120 | 2 | 178539459 | missense variant | C/G;T | snv | 4.8E-05 | 1 | ||
| rs281864928 | 1.000 | 0.120 | 2 | 178527148 | missense variant | A/C;G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs281864929 | 1.000 | 0.120 | 2 | 178527098 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
| rs281864932 | 1.000 | 0.120 | 2 | 178527479 | frameshift variant | A/- | del | 1 | |||
| rs281864933 | 1.000 | 0.120 | 2 | 178527091 | inframe deletion | CCATCT/- | del | 1 | |||
| rs372277017 | 1.000 | 0.120 | 2 | 178733497 | stop gained | G/A | snv | 4.1E-06 | 1.4E-05 | 1 |