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 | |||
| rs200100285 | 0.851 | 0.080 | 1 | 11796313 | missense variant | T/C;G | snv | 1.9E-04 | 4 | ||
| rs760161369 | 0.882 | 0.040 | 1 | 11800214 | missense variant | G/A;C | snv | 2.8E-05; 4.0E-06 | 3 | ||
| rs786204030 | 0.882 | 0.080 | 1 | 11791276 | stop gained | C/T | snv | 3 | |||
| rs147257424 | 0.925 | 0.080 | 1 | 11801299 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 2 | ||
| rs267606886 | 0.925 | 1 | 11795114 | missense variant | A/C | snv | 2 | ||||
| rs267606887 | 0.925 | 1 | 11795158 | missense variant | T/C | snv | 2 | ||||
| rs754980119 | 0.925 | 0.280 | 1 | 11802962 | missense variant | C/G;T | snv | 4.0E-06; 5.6E-05 | 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 | ||||
| rs144508139 | 1.000 | 1 | 11791244 | missense variant | G/A | snv | 1.6E-05 | 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 | ||||
| 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 | |||
| rs543016186 | 1.000 | 1 | 11795125 | missense variant | C/G;T | snv | 4.0E-06; 4.8E-05 | 1 | |||
| rs747846362 | 1.000 | 1 | 11791206 | splice donor variant | C/A | snv | 4.0E-06 | 1 | |||
| rs749765738 | 1.000 | 1 | 11792276 | splice donor variant | A/C;G | snv | 4.0E-06 | 1 | |||
| rs754015864 | 1.000 | 1 | 11794401 | missense variant | A/G | snv | 1.6E-05 | 1 | |||
| rs758206023 | 1.000 | 1 | 11790843 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | |||
| rs763539350 | 1.000 | 1 | 11802915 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-05 | 1 |