| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1060499938 | 0.925 | 0.080 | 3 | 132683487 | frameshift variant | G/- | del | 2 | |||
| rs119456959 | 0.925 | 0.080 | 3 | 132682077 | inframe deletion | CCT/- | delins | 2 | |||
| rs121907898 | 0.925 | 0.080 | 2 | 110201484 | stop gained | A/C;T | snv | 4.0E-06 | 2 | ||
| rs121907899 | 0.925 | 0.080 | 2 | 110163048 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-04 | 2 | ||
| rs121964994 | 0.925 | 0.080 | 9 | 100284342 | stop gained | C/T | snv | 1.2E-05 | 2 | ||
| rs137852919 | 0.925 | 0.080 | 1 | 5887394 | stop gained | G/A | snv | 2 | |||
| rs150681845 | 1.000 | 0.080 | 4 | 127687772 | missense variant | G/A | snv | 2.6E-03 | 1.8E-03 | 2 | |
| rs200844390 | 0.925 | 0.080 | 9 | 100292952 | stop gained | C/A;T | snv | 1.6E-05; 4.8E-05 | 2 | ||
| rs267606916 | 0.925 | 0.080 | 3 | 132696798 | stop gained | G/A | snv | 4.8E-05 | 1.0E-04 | 2 | |
| rs747861275 | 0.925 | 0.080 | 2 | 110146752 | splice donor variant | C/- | del | 8.0E-06 | 2 | ||
| rs766524637 | 0.925 | 0.080 | 2 | 110168521 | frameshift variant | T/-;TT | delins | 2.1E-05 | 2 | ||
| rs104894760 | 0.851 | 0.080 | X | 153905816 | missense variant | C/T | snv | 1 | |||
| rs1210874691 | 1.000 | 0.080 | 1 | 5927733 | stop gained | C/A | snv | 2.1E-05 | 1 | ||
| rs1280238814 | 1.000 | 0.080 | 3 | 121772620 | stop gained | G/A | snv | 8.0E-06 | 1 | ||
| rs1322951938 | 1.000 | 0.080 | 9 | 100293045 | splice donor variant | T/C;G | snv | 1 | |||
| rs1425211517 | 1.000 | 0.080 | 9 | 100297017 | stop gained | C/T | snv | 1 | |||
| rs150001738 | 1.000 | 0.080 | 9 | 100284591 | stop gained | A/G;T | snv | 3.1E-04 | 3.3E-04 | 1 | |
| rs1553773271 | 1.000 | 0.080 | 3 | 132699352 | splice donor variant | C/T | snv | 1 | |||
| rs1560000875 | 1.000 | 0.080 | 3 | 132686280 | stop gained | G/C | snv | 1 | |||
| rs1560002147 | 1.000 | 0.080 | 3 | 132688818 | frameshift variant | -/G | delins | 1 | |||
| rs1560017690 | 1.000 | 0.080 | 3 | 132719814 | frameshift variant | T/- | del | 1 | |||
| rs1564123602 | 1.000 | 0.080 | 9 | 100126450 | frameshift variant | -/CAGA | delins | 1 | |||
| rs201237799 | 1.000 | 0.080 | 3 | 132691199 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 1 | |
| rs372607453 | 1.000 | 0.080 | 7 | 92534788 | missense variant | A/G | snv | 2.8E-05 | 1.4E-05 | 1 | |
| rs376879175 | 1.000 | 0.080 | 9 | 100293039 | stop gained | C/A;T | snv | 1.2E-05; 1.6E-05 | 1 |