Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
| rs786204030 | 0.882 | 0.080 | 1 | 11791276 | stop gained | C/T | snv | 3 | |||
| rs267606886 | 0.925 | 1 | 11795114 | missense variant | A/C | snv | 2 | ||||
| rs267606887 | 0.925 | 1 | 11795158 | missense variant | T/C | snv | 2 | ||||
| rs1057519359 | 1.000 | 1 | 11802880 | splice donor variant | C/T | snv | 1 | ||||
| rs1057519361 | 1.000 | 1 | 11796382 | missense variant | G/T | snv | 1 | ||||
| rs1057519362 | 1.000 | 1 | 11796324 | frameshift variant | C/- | delins | 1 | ||||
| rs1057519363 | 1.000 | 1 | 11792317 | frameshift variant | C/- | del | 1 | ||||
| rs1182635980 | 1.000 | 1 | 11800275 | missense variant | C/T | snv | 1 | ||||
| rs1553187509 | 1.000 | 1 | 11801399 | missense variant | C/A | snv | 1 | ||||
| rs1553188112 | 1.000 | 1 | 11803156 | 5 prime UTR variant | AG/- | del | 1 | ||||
| rs1557761665 | 1.000 | 1 | 11794437 | frameshift variant | -/C | delins | 1 | ||||
| rs759031330 | 1.000 | 1 | 11794862 | missense variant | G/A | snv | 7.0E-06 | 1 | |||
| rs786204009 | 1.000 | 1 | 11801392 | missense variant | G/A | snv | 1 | ||||
| rs786204010 | 1.000 | 1 | 11801333 | inframe insertion | -/TCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGG | delins | 1 | ||||
| rs786204012 | 1.000 | 1 | 11801248 | missense variant | A/G | snv | 1 | ||||
| rs786204013 | 1.000 | 1 | 11801196 | missense variant | T/G | snv | 1 | ||||
| rs786204014 | 1.000 | 1 | 11796399 | missense variant | C/T | snv | 1 | ||||
| rs786204016 | 1.000 | 1 | 11796307 | inframe deletion | TGA/- | delins | 1 | ||||
| rs786204018 | 1.000 | 1 | 11796222 | missense variant | C/A | snv | 1 | ||||
| rs786204019 | 1.000 | 1 | 11796217 | missense variant | A/C | snv | 1 | ||||
| rs786204020 | 1.000 | 1 | 11796205 | splice donor variant | C/A;T | snv | 1 | ||||
| rs786204021 | 1.000 | 1 | 11794853 | missense variant | G/A | snv | 1 | ||||
| rs786204024 | 1.000 | 1 | 11794781 | missense variant | T/C | snv | 1 | ||||
| rs786204026 | 1.000 | 1 | 11793921 | missense variant | A/C | snv | 1 |