| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397515563 | 1.000 | 0.160 | 9 | 34517468 | splice donor variant | G/A | snv | 4.0E-06 | 2 | ||
| rs376252276 | 1.000 | 0.160 | 9 | 34513112 | missense variant | G/A;C;T | snv | 7.6E-05; 4.0E-06; 4.0E-06 | 2 | ||
| rs200669099 | 1.000 | 0.160 | 9 | 34514468 | stop gained | G/A | snv | 3.6E-05 | 5.6E-05 | 2 | |
| rs200488444 | 1.000 | 0.160 | 9 | 34490011 | splice acceptor variant | G/C | snv | 4.1E-04 | 4.5E-04 | 2 | |
| rs79833450 | 1.000 | 0.160 | 9 | 34513165 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 2 | |
| rs397515363 | 1.000 | 0.160 | 9 | 34459054 | splice donor variant | -/T | delins | 2 | |||
| rs769224534 | 9 | 34491498 | stop gained | C/A;G;T | snv | 4.0E-06; 1.6E-05; 2.0E-05 | 1 | ||||
| rs876657683 | 9 | 34489394 | frameshift variant | C/- | delins | 1.4E-05 | 1 | ||||
| rs368248592 | 1.000 | 0.120 | 9 | 34514436 | missense variant | G/A;T | snv | 7.6E-05; 2.0E-05 | 1 | ||
| rs116938457 | 9 | 34489431 | missense variant | C/G;T | snv | 4.1E-04 | 1 | ||||
| rs772686744 | 9 | 34514527 | missense variant | G/C | snv | 1.6E-05 | 2.8E-05 | 1 | |||
| rs769284314 | 9 | 34506870 | stop gained | G/A | snv | 4.0E-06 | 1 | ||||
| rs878854968 | 9 | 34500732 | stop gained | C/G | snv | 4.0E-06 | 1 | ||||
| rs1060503495 | 9 | 34485216 | frameshift variant | T/- | del | 4.0E-06 | 1 | ||||
| rs1465404366 | 9 | 34513192 | splice donor variant | G/T | snv | 7.0E-06 | 1 | ||||
| rs1060503515 | 9 | 34506748 | frameshift variant | C/- | delins | 1 | |||||
| rs751920647 | 9 | 34513152 | frameshift variant | C/- | del | 4.0E-06 | 1.4E-05 | 1 | |||
| rs202213517 | 1.000 | 0.160 | 9 | 34497160 | missense variant | C/T | snv | 1.8E-03 | 4.5E-04 | 1 | |
| rs606231164 | 1.000 | 0.160 | 9 | 34489343 | frameshift variant | -/AATA | ins | 1 | |||
| rs606231165 | 1.000 | 0.160 | 9 | 34514480 | inframe deletion | CCAAGGTCTTCA/- | delins | 1 |