Source: CLINVAR ×
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs869178171 | 0.790 | 0.200 | 2 | 178563475 | stop gained | C/A | snv | 7 | |||
| rs397517689 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
| rs72648250 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 4 | ||
| rs727503607 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 4 |