Source: CURATED ×
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121908698 | 0.851 | 0.200 | 22 | 28725242 | splice donor variant | C/A;T | snv | 4.0E-06; 1.3E-04 | 7 | ||
| rs121908702 | 0.882 | 0.120 | 22 | 28711986 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06; 7.6E-05 | 4 | ||
| rs121909231 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 29 | |||
| rs121913293 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 18 | |||
| rs200917541 | 0.851 | 0.200 | 22 | 28725270 | stop gained | G/A;T | snv | 5 | |||
| rs28897756 | 0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 | 11 | ||
| rs370795352 | 0.742 | 0.360 | 10 | 87933163 | missense variant | T/A;C | snv | 4.0E-06 | 13 | ||
| rs397507327 | 0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 | 9 | ||
| rs397507404 | 0.763 | 0.320 | 13 | 32370955 | splice acceptor variant | G/A;T | snv | 10 | |||
| rs41293497 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 14 | ||
| rs45580035 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 8 | ||
| rs560596101 | 0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 | 5 | ||
| rs587781705 | 0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv | 5 | |||
| rs587782401 | 0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 | 5 | ||
| rs587782798 | 0.807 | 0.400 | 16 | 68813322 | stop gained | C/T | snv | 7 | |||
| rs80358391 | 0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 | 10 | ||
| rs80358427 | 0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 | 10 | ||
| rs80358435 | 0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 11 | ||
| rs80358557 | 0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 10 | ||
| rs80358721 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 11 | ||
| rs80358807 | 0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv | 9 | |||
| rs80358814 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 11 | ||
| rs80358893 | 0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv | 10 | |||
| rs80358920 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 12 | |||
| rs80358972 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 11 |