| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
| rs869025195 | 0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv | 11 | |||
| rs869312953 | 0.851 | 0.120 | 1 | 64846735 | missense variant | G/T | snv | 5 | |||
| rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
| rs1553249737 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 4 | ||||
| rs387907306 | 0.925 | 0.160 | 1 | 2228866 | missense variant | G/A;T | snv | 4 | |||
| rs797044885 | 0.925 | 1 | 244055156 | missense variant | A/G | snv | 4 | ||||
| rs1313319892 | 1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 | 3 | |||
| rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
| rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
| rs1553353206 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 3 | ||||
| rs387907186 | 0.925 | 0.120 | 1 | 149923670 | frameshift variant | G/-;GG | delins | 3 | |||
| rs587783211 | 0.925 | 0.120 | 1 | 197086966 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 3 | |
| rs797044870 | 0.925 | 1 | 22086456 | missense variant | A/G | snv | 3 | ||||
| rs1026300967 | 1.000 | 1 | 156868246 | missense variant | T/C | snv | 2 | ||||
| rs1189399471 | 1.000 | 1 | 197103099 | frameshift variant | T/- | del | 2 | ||||
| rs1283368278 | 1.000 | 1 | 235401503 | missense variant | G/C | snv | 7.0E-06 | 2 | |||
| rs1553153365 | 1 | 23310702 | stop gained | G/A | snv | 2 | |||||
| rs1553182933 | 1.000 | 1 | 61404103 | splice acceptor variant | G/A | snv | 2 | ||||
| rs1553182964 | 1 | 61404170 | frameshift variant | ACTT/- | delins | 2 | |||||
| rs1553227742 | 1.000 | 1 | 197142866 | stop gained | G/C | snv | 2 | ||||
| rs1553234339 | 1.000 | 1 | 103012412 | splice donor variant | C/T | snv | 2 | ||||
| rs1553263326 | 1.000 | 1 | 156881446 | intron variant | G/A | snv | 2 | ||||
| rs1553268563 | 1 | 215845823 | coding sequence variant | C/- | delins | 2 | |||||
| rs1553326645 | 1.000 | 1 | 197094181 | splice acceptor variant | C/G | snv | 2 |