Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1557291170 | 1.000 | 0.120 | X | 32343233 | frameshift variant | ATACCACTGATGAGAAATTTCTAGAGCC/- | del | 1 | |||
| rs1557047827 | 0.925 | 0.120 | X | 32809512 | frameshift variant | C/- | del | 2 | |||
| rs1057518692 | 1.000 | 0.120 | X | 32343221 | frameshift variant | C/- | delins | 1 | |||
| rs1060502625 | 1.000 | 0.120 | X | 31147347 | frameshift variant | C/- | delins | 1 | |||
| rs1060502640 | 1.000 | 0.120 | X | 32287614 | frameshift variant | C/- | del | 1 | |||
| rs1557300135 | 1.000 | 0.120 | X | 33211294 | frameshift variant | C/- | del | 1 | |||
| rs1557374667 | 1.000 | 0.120 | X | 32472310 | splice acceptor variant | C/- | del | 1 | |||
| rs1060502637 | 1.000 | 0.120 | X | 32411914 | splice acceptor variant | C/A | snv | 1 | |||
| rs1060502645 | 1.000 | 0.120 | X | 32365187 | stop gained | C/A | snv | 1 | |||
| rs1556802319 | 1.000 | 0.120 | X | 32565701 | splice donor variant | C/A | snv | 1 | |||
| rs1556876346 | 1.000 | 0.120 | X | 32645038 | stop gained | C/A | snv | 1 | |||
| rs1556962223 | 1.000 | 0.120 | X | 31875187 | splice donor variant | C/A | snv | 1 | |||
| rs1569560739 | 1.000 | 0.120 | X | 32389533 | stop gained | C/A | snv | 1 | |||
| rs878854619 | 1.000 | 0.120 | X | 32573638 | splice acceptor variant | C/A | snv | 1 | |||
| rs886042747 | 1.000 | 0.120 | X | 32364596 | stop gained | C/A | snv | 1 | |||
| rs886043041 | 1.000 | 0.120 | X | 32343133 | splice donor variant | C/A | snv | 9.5E-06 | 1 | ||
| rs398123923 | 0.925 | 0.160 | X | 33211281 | splice donor variant | C/A;G | snv | 2 | |||
| rs779739455 | 0.925 | 0.120 | X | 31968451 | splice acceptor variant | C/A;G | snv | 5.5E-06 | 2 | ||
| rs398123960 | 1.000 | 0.120 | X | 32389496 | splice region variant | C/A;G;T | snv | 1 | |||
| rs398123909 | 0.882 | 0.160 | X | 32472310 | splice acceptor variant | C/A;T | snv | 3 | |||
| rs146880270 | 0.925 | 0.160 | X | 32438312 | stop gained | C/A;T | snv | 5.5E-06 | 2 | ||
| rs1239018406 | 1.000 | 0.120 | X | 32699111 | splice donor variant | C/A;T | snv | 1 | |||
| rs1340365803 | 1.000 | 0.120 | X | 32809553 | stop gained | C/A;T | snv | 9.5E-06 | 1 | ||
| rs398123828 | 1.000 | 0.120 | X | 31180369 | splice donor variant | C/A;T | snv | 1 | |||
| rs765445866 | 1.000 | 0.120 | X | 32364626 | stop gained | C/A;T | snv | 5.5E-06 | 1 |