| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs137854889 | 0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins | 31 | |||
| rs11575937 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 29 | |||
| rs386134243 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 16 | ||
| rs58596362 | 0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 | 7 | ||
| rs113436208 | 0.925 | 0.160 | 1 | 156138758 | splice donor variant | G/A;C | snv | 2 | |||
| rs267607181 | 1.000 | 0.120 | 1 | 40271981 | stop gained | G/A;T | snv | 1.2E-05; 4.0E-06 | 1 | ||
| rs281875360 | 1.000 | 0.120 | 1 | 40258320 | frameshift variant | A/- | delins | 1 | |||
| rs281875361 | 1.000 | 0.120 | 1 | 40258324 | frameshift variant | -/T | delins | 1 | |||
| rs281875367 | 1.000 | 0.120 | 1 | 40270084 | frameshift variant | -/T | delins | 1 | |||
| rs786205123 | 1.000 | 0.120 | 1 | 40270083 | frameshift variant | AT/- | delins | 1 |