| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs193922641 | 0.882 | 0.120 | 5 | 35867437 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 3 | |
| rs104893894 | 0.925 | 0.120 | 5 | 35871070 | missense variant | C/T | snv | 4.0E-06 | 2 | ||
| rs104893893 | 1.000 | 0.120 | 5 | 35873593 | stop gained | G/A | snv | 1 | |||
| rs1315265916 | 1.000 | 0.120 | 5 | 35873479 | splice acceptor variant | G/A | snv | 1.2E-05 | 2.1E-05 | 1 | |
| rs1554066684 | 1.000 | 0.120 | 5 | 35867372 | frameshift variant | GAAA/- | delins | 1 | |||
| rs1554067182 | 1.000 | 0.120 | 5 | 35874494 | frameshift variant | -/C | delins | 1 | |||
| rs1561423197 | 1.000 | 0.120 | 5 | 35871112 | frameshift variant | TT/- | delins | 1 | |||
| rs199641706 | 1.000 | 0.120 | 5 | 35867417 | synonymous variant | T/A;C | snv | 1 | |||
| rs766555082 | 1.000 | 0.120 | 5 | 35873646 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
| rs869312857 | 1.000 | 0.120 | 5 | 35867438 | frameshift variant | -/A | delins | 1 | |||
| rs200044623 | 1.000 | 0.120 | 5 | 35860992 | splice donor variant | T/G | snv | 4.0E-05 | 2.1E-05 | 1 | |
| rs200803157 | 1.000 | 0.120 | 5 | 35860851 | splice acceptor variant | G/A | snv | 7.0E-06 | 1 | ||
| rs1553243550 | 1.000 | 0.120 | 1 | 198735253 | splice donor variant | G/A | snv | 1 | |||
| rs398122383 | 1.000 | 0.120 | 1 | 198718267 | stop gained | A/G;T | snv | 4.0E-06 | 1 |