Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs62645748 | 0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 | 7 | |
| rs137853137 | 0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 | 4 | |
| rs145282040 | 1.000 | 0.080 | 1 | 197427454 | missense variant | A/G;T | snv | 1.6E-05 | 1 | ||
| rs1553249226 | 1 | 197328605 | missense variant | G/A | snv | 1 | |||||
| rs1553263218 | 1 | 197435404 | frameshift variant | -/G | delins | 1 | |||||
| rs267598278 | 1 | 197421741 | missense variant | C/T | snv | 1.6E-05 | 1 | ||||
| rs773233587 | 1 | 197421540 | missense variant | A/C | snv | 4.0E-06 | 1 | ||||
| rs878853364 | 1 | 197421440 | frameshift variant | -/CTTA | ins | 1 | |||||
| rs878853366 | 1 | 197344433 | frameshift variant | -/A | delins | 1 | |||||
| rs878853369 | 1 | 197477817 | stop gained | G/T | snv | 1 | |||||
| rs878853370 | 1 | 197356848 | missense variant | T/C | snv | 1 | |||||
| rs878853371 | 1 | 197434732 | stop gained | C/T | snv | 1 |