| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs754944429 | 1.000 | 0.080 | 15 | 50997722 | frameshift variant | -/TATGT | ins | 3.2E-05; 8.0E-06 | 1 | ||
| rs754944359 | 1.000 | 0.080 | 14 | 31066239 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs1060502224 | 1.000 | 0.080 | 8 | 64596876 | frameshift variant | -/A | delins | 8.0E-06 | 1 | ||
| rs200737038 | 1.000 | 0.080 | 8 | 64616207 | stop gained | G/A | snv | 1.4E-04 | 7.0E-05 | 1 | |
| rs746979262 | 1.000 | 0.080 | 8 | 64624475 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs770285398 | 1.000 | 0.080 | 8 | 64616217 | frameshift variant | GTTT/- | delins | 2.8E-05 | 2.8E-05 | 1 | |
| rs794727501 | 1.000 | 0.080 | 8 | 64616016 | stop gained | C/G;T | snv | 1 | |||
| rs878855083 | 1.000 | 0.080 | 16 | 74716564 | frameshift variant | AG/- | del | 4.7E-06 | 1 | ||
| rs1448182827 | 1.000 | 0.080 | 9 | 35738148 | frameshift variant | G/- | del | 8.0E-06 | 1.4E-05 | 1 | |
| rs1553262438 | 1.000 | 0.080 | 1 | 228157899 | stop gained | C/G | snv | 1 | |||
| rs1558119445 | 1.000 | 0.080 | 1 | 228157841 | frameshift variant | -/AC | delins | 1 | |||
| rs1569285562 | 1.000 | 0.080 | X | 53224889 | start lost | T/C | snv | 1 | |||
| rs1557090220 | 1.000 | 0.080 | X | 153864820 | splice donor variant | C/G | snv | 1 | |||
| rs1557091278 | 1.000 | 0.080 | X | 153867355 | splice donor variant | C/T | snv | 1 | |||
| rs1557092248 | 1.000 | 0.080 | X | 153869520 | stop gained | G/A | snv | 1 | |||
| rs1569544723 | 1.000 | 0.080 | X | 153867479 | stop gained | G/A | snv | 1 | |||
| rs1569544908 | 1.000 | 0.080 | X | 153872147 | splice region variant | C/T | snv | 1 | |||
| rs863224494 | 1.000 | 0.080 | X | 153867800 | stop gained | T/A | snv | 1 | |||
| rs886039405 | 1.000 | 0.080 | X | 153870246 | splice region variant | C/T | snv | 1 | |||
| rs886039410 | 1.000 | 0.080 | X | 153865707 | stop gained | G/T | snv | 1 | |||
| rs759033144 | 1.000 | 0.080 | 4 | 107947399 | frameshift variant | AG/- | delins | 1.2E-05 | 2.1E-05 | 1 | |
| rs1006060877 | 1.000 | 0.080 | 13 | 23354743 | frameshift variant | C/- | del | 1.4E-05 | 1 | ||
| rs1060503431 | 1.000 | 0.080 | 13 | 23334312 | frameshift variant | ACAA/- | delins | 1 | |||
| rs1156566314 | 1.000 | 0.080 | 13 | 23332937 | stop gained | C/A;T | snv | 1 | |||
| rs1566055368 | 1.000 | 0.080 | 13 | 23330968 | stop gained | A/T | snv | 1 |