Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200913791 | 0.925 | 0.160 | 3 | 50342473 | missense variant | A/G | snv | 2.0E-04 | 3.5E-05 | 3 | |
rs138815960 | 0.925 | 0.160 | 3 | 50345533 | splice donor variant | A/C | snv | 2.7E-04 | 2.1E-04 | 3 | |
rs397515460 | 1.000 | 3 | 50342047 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | ||
rs587621539 | 1.000 | 3 | 50345495 | missense variant | A/G | snv | 2.2E-05 | 9.8E-05 | 1 | ||
rs587777043 | 1.000 | 3 | 50343752 | frameshift variant | G/- | delins | 7.0E-06 | 1 | |||
rs587777044 | 1.000 | 3 | 50343330 | frameshift variant | -/T | delins | 1 | ||||
rs587777045 | 1.000 | 3 | 50343123 | frameshift variant | CA/- | delins | 1.4E-05 | 1 |