| 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 | |||
| rs121908093 | 0.882 | 0.160 | 1 | 40285988 | missense variant | T/C | snv | 3 | |||
| rs121908094 | 0.925 | 0.160 | 1 | 40258392 | stop gained | C/T | snv | 8.0E-06 | 3 | ||
| rs121908095 | 0.925 | 0.160 | 1 | 40272009 | missense variant | C/G;T | snv | 2.0E-05 | 3 | ||
| rs281875371 | 0.925 | 0.160 | 1 | 40281367 | missense variant | A/G | snv | 1.2E-05 | 2.8E-05 | 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 | |||
| rs281875376 | 1.000 | 0.160 | 1 | 40292590 | stop gained | G/A | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs786205123 | 1.000 | 0.120 | 1 | 40270083 | frameshift variant | AT/- | delins | 1 |