Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs142371860 | 0.925 | 0.160 | 2 | 26421396 | stop gained | C/A;T | snv | 3.9E-04 | 3 | ||
| rs146412095 | 2 | 26450086 | splice donor variant | G/A;T | snv | 8.1E-05; 4.1E-06 | 1 | ||||
| rs745800344 | 2 | 26444221 | splice acceptor variant | G/T | snv | 8.0E-06 | 7.0E-06 | 1 |