Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs875989800 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 33 | |||
rs387907141 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 24 | |||
rs387906846 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 19 |