Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057519359 | 1.000 | 1 | 11802880 | splice donor variant | C/T | snv | 1 | ||||
| rs1057519360 | 1.000 | 1 | 11801220 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 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 | ||||
| rs121434295 | 0.925 | 1 | 11801166 | missense variant | C/T | snv | 3.6E-05 | 2.1E-05 | 2 | ||
| rs121434296 | 0.882 | 0.040 | 1 | 11794766 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 3 | |
| rs121434297 | 0.925 | 1 | 11795161 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 2 | ||
| rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
| rs138189536 | 1.000 | 1 | 11802981 | missense variant | G/A | snv | 2.0E-04 | 7.7E-05 | 1 | ||
| rs1430872491 | 1.000 | 1 | 11794735 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | ||
| rs144508139 | 1.000 | 1 | 11791244 | missense variant | G/A | snv | 1.6E-05 | 1 | |||
| rs147257424 | 0.925 | 0.080 | 1 | 11801299 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 2 | ||
| 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 | ||||
| rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
| rs200100285 | 0.851 | 0.080 | 1 | 11796313 | missense variant | T/C;G | snv | 1.9E-04 | 4 | ||
| rs200137991 | 1.000 | 1 | 11794443 | missense variant | C/A;G | snv | 1.2E-05; 4.0E-06 | 1 | |||
| rs201618781 | 1.000 | 1 | 11802965 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 3.2E-05 | 1 | |||
| rs267606886 | 0.925 | 1 | 11795114 | missense variant | A/C | snv | 2 | ||||
| rs267606887 | 0.925 | 1 | 11795158 | missense variant | T/C | snv | 2 | ||||
| rs367585605 | 1.000 | 1 | 11794385 | synonymous variant | C/T | snv | 2.4E-05; 4.0E-06 | 3.5E-05 | 1 | ||
| rs368321176 | 1.000 | 1 | 11795116 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 |