Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs150299874 | 1.000 | 0.120 | 14 | 50302901 | splice donor variant | C/T | snv | 1.2E-05 | 7.0E-06 | 5 | |
rs1564045331 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 35 | |||
rs372445155 | 0.851 | 0.280 | 18 | 23554890 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 7 | |
rs778543124 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 35 | |
rs80358257 | 0.827 | 0.280 | 18 | 23538564 | missense variant | G/C | snv | 1.2E-04 | 2.1E-04 | 8 |