| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs869025398 | 6 | 7567451 | splice donor variant | T/G | snv | 1 | |||||
| rs869025399 | 6 | 7582986 | frameshift variant | A/- | delins | 1 | |||||
| rs879255521 | 6 | 7580193 | stop gained | C/T | snv | 4.0E-06 | 1 | ||||
| rs992189342 | 15 | 57618106 | stop gained | C/A;T | snv | 7.0E-06 | 1 | ||||
| rs747321794 | 21 | 34449462 | missense variant | G/A | snv | 2.8E-05 | 1 | ||||
| rs727504557 | X | 120441824 | frameshift variant | T/- | delins | 1 | |||||
| rs111569862 | 1 | 156137653 | splice acceptor variant | G/A;C | snv | 1 | |||||
| rs267607593 | 1 | 156134964 | missense variant | T/C | snv | 1 | |||||
| rs267607594 | 0.925 | 0.120 | 1 | 156130745 | missense variant | T/C | snv | 1 | |||
| rs28933090 | 0.925 | 0.160 | 1 | 156115172 | missense variant | T/A;G | snv | 1 | |||
| rs397517886 | 1 | 156136070 | missense variant | T/C | snv | 1 | |||||
| rs397517887 | 1 | 156136074 | inframe deletion | ATGGAGATCCACGCC/- | delins | 1 | |||||
| rs397517895 | 1 | 156115072 | missense variant | C/G | snv | 1 | |||||
| rs397517904 | 1 | 156130774 | splice donor variant | G/A;C;T | snv | 1 | |||||
| rs397517908 | 1 | 156134927 | frameshift variant | C/- | delins | 1 | |||||
| rs397517909 | 1 | 156134949 | stop gained | G/T | snv | 1 | |||||
| rs397517911 | 1 | 156135239 | missense variant | C/G | snv | 1 | |||||
| rs397517915 | 1 | 156135922 | frameshift variant | C/- | del | 1 | |||||
| rs58389804 | 1 | 156136049 | frameshift variant | T/- | delins | 1 | |||||
| rs58917027 | 1.000 | 0.120 | 1 | 156130708 | missense variant | A/C;G | snv | 1 | |||
| rs58978449 | 1 | 156134943 | inframe deletion | AAG/- | delins | 1 | |||||
| rs59564495 | 1 | 156135231 | frameshift variant | G/- | delins | 1 | |||||
| rs730880132 | 1 | 156134875 | missense variant | T/C | snv | 1 | |||||
| rs753988867 | 1 | 156137180 | missense variant | C/T | snv | 2.1E-05 | 3.5E-05 | 1 | |||
| rs794728593 | 1 | 156134933 | synonymous variant | G/A | snv | 7.0E-06 | 1 |