Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1557761665 | 1.000 | 1 | 11794437 | frameshift variant | -/C | delins | 1 | ||||
| rs786204010 | 1.000 | 1 | 11801333 | inframe insertion | -/TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG | delins | 1 | ||||
| rs267606886 | 0.925 | 1 | 11795114 | missense variant | A/C | snv | 2 | ||||
| rs786204019 | 1.000 | 1 | 11796217 | missense variant | A/C | snv | 1 | ||||
| rs786204026 | 1.000 | 1 | 11793921 | missense variant | A/C | snv | 1 | ||||
| rs749765738 | 1.000 | 1 | 11792276 | splice donor variant | A/C;G | snv | 4.0E-06 | 1 | |||
| rs786204027 | 1.000 | 1 | 11793905 | splice donor variant | A/C;G | snv | 4.1E-06 | 1 | |||
| rs786204031 | 1.000 | 1 | 11791235 | missense variant | A/C;G | snv | 4.0E-06 | 1 | |||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs121434297 | 0.925 | 1 | 11795161 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 2 | ||
| rs368321176 | 1.000 | 1 | 11795116 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | ||
| rs754015864 | 1.000 | 1 | 11794401 | missense variant | A/G | snv | 1.6E-05 | 1 | |||
| rs768434408 | 1.000 | 1 | 11790682 | stop lost | A/G | snv | 4.0E-06 | 7.0E-06 | 1 | ||
| rs786204012 | 1.000 | 1 | 11801248 | missense variant | A/G | snv | 1 | ||||
| rs786204034 | 1.000 | 1 | 11790858 | missense variant | A/G | snv | 1 | ||||
| rs786204037 | 1.000 | 1 | 11790768 | missense variant | A/G;T | snv | 1 | ||||
| rs373398993 | 1.000 | 1 | 11796219 | missense variant | A/T | snv | 8.0E-06 | 1.4E-05 | 1 | ||
| rs1553188112 | 1.000 | 1 | 11803156 | 5 prime UTR variant | AG/- | del | 1 | ||||
| rs1057519362 | 1.000 | 1 | 11796324 | frameshift variant | C/- | delins | 1 | ||||
| rs1057519363 | 1.000 | 1 | 11792317 | frameshift variant | C/- | del | 1 | ||||
| rs1553187509 | 1.000 | 1 | 11801399 | missense variant | C/A | snv | 1 | ||||
| rs747846362 | 1.000 | 1 | 11791206 | splice donor variant | C/A | snv | 4.0E-06 | 1 | |||
| rs786204018 | 1.000 | 1 | 11796222 | missense variant | C/A | snv | 1 | ||||
| rs200137991 | 1.000 | 1 | 11794443 | missense variant | C/A;G | snv | 1.2E-05; 4.0E-06 | 1 | |||
| rs147257424 | 0.925 | 0.080 | 1 | 11801299 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 2 |