| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs142285818 | 0.807 | 0.120 | 3 | 129532727 | missense variant | C/G;T | snv | 9.7E-04 | 4.1E-04 | 11 | |
| rs80358284 | 0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 | 10 | ||
| rs531630376 | 1.000 | 0.080 | 5 | 141955844 | stop gained | C/A | snv | 4.0E-06 | 4 | ||
| rs80358295 | 0.925 | 0.080 | 11 | 86951471 | frameshift variant | GTCT/- | delins | 8.0E-06 | 2.1E-05 | 2 | |
| rs869312819 | 0.925 | 0.080 | 13 | 49544736 | splice donor variant | C/T | snv | 4.0E-06 | 2 | ||
| rs777630688 | 1.000 | 0.080 | 13 | 49552182 | frameshift variant | T/- | delins | 1.1E-04 | 3.5E-05 | 1 |