Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912946 | 0.925 | 0.160 | 6 | 33166736 | missense variant | C/T | snv | 2 | |||
rs121912950 | 0.925 | 0.200 | 6 | 33167305 | stop gained | G/A | snv | 2 | |||
rs750995470 | 1.000 | 0.080 | 6 | 33166512 | splice donor variant | C/T | snv | 1.2E-05 | 1 | ||
rs864309477 | 1.000 | 0.080 | 6 | 33172580 | inframe deletion | GCCCCGGGGGGCCTGGGTGACCTCTCT/- | del | 1 |