Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs796052243 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 54 | |||
rs139632595 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 19 | |
rs1057516264 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 13 | |||
rs1554901898 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 12 | |||
rs772037717 | 0.882 | 0.080 | 6 | 98875675 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 8 | |
rs749203329 | 0.882 | 0.080 | 19 | 6213787 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 7 |