Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 10 | |
| rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 5 | ||
| rs121913332 | 0.925 | 0.120 | 5 | 112839942 | stop gained | C/G;T | snv | 4.0E-06 | 4 | ||
| rs121913333 | 0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv | 4 | |||
| rs121913327 | 0.925 | 0.120 | 5 | 112839606 | stop gained | C/G;T | snv | 3 | |||
| rs121913326 | 5 | 112839729 | stop gained | G/T | snv | 1 | |||||
| rs121913328 | 5 | 112839693 | stop gained | C/T | snv | 1 | |||||
| rs121913329 | 5 | 112839726 | stop gained | C/T | snv | 1 | |||||
| rs121913462 | 5 | 112839510 | stop gained | G/A;T | snv | 1 | |||||
| rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 1 | |
| rs74535574 | 5 | 112839879 | stop gained | C/A;T | snv | 1 |