Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1114167445 | 0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 | 15 | ||
rs1160978570 | 0.925 | 0.120 | 11 | 68933482 | splice donor variant | G/C;T | snv | 4.1E-06 | 5 | ||
rs1561498701 | 1.000 | 0.080 | 5 | 70925150 | frameshift variant | -/GGATTCCG | delins | 5 |