| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
| rs869025195 | 0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv | 11 | |||
| rs587776935 | 0.827 | 0.120 | 1 | 243505296 | missense variant | G/A | snv | 7 | |||
| rs121918243 | 0.882 | 0.160 | 1 | 45508848 | missense variant | G/A | snv | 1.7E-04 | 7.7E-05 | 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 | |||
| rs1553156053 | 1.000 | 1 | 42929652 | stop gained | G/A | snv | 3 | ||||
| rs1553212545 | 1.000 | 1 | 151406046 | stop gained | G/A | snv | 3 | ||||
| rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
| rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
| rs1553259529 | 1.000 | 1 | 161306152 | frameshift variant | -/C | delins | 3 | ||||
| rs1553270522 | 1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins | 3 | ||||
| rs1553353206 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 3 | ||||
| rs372754256 | 1.000 | 1 | 152307855 | stop gained | G/C | snv | 4.7E-04 | 9.8E-05 | 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 | |
| rs757347274 | 0.925 | 1 | 235470849 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-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 | |||
| rs1553182933 | 1.000 | 1 | 61404103 | splice acceptor variant | G/A | snv | 2 |