Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587778771 | 0.827 | 0.120 | 16 | 29813695 | frameshift variant | C/-;CC;CCC | delins | 5 | |||
rs387907126 | 0.851 | 0.120 | 16 | 29813772 | stop gained | C/T | snv | 4.2E-06 | 4 | ||
rs730882067 | 0.882 | 0.120 | 16 | 29813677 | splice acceptor variant | C/-;CC | delins | 3 | |||
rs1064793851 | 1.000 | 0.040 | 16 | 29813653 | frameshift variant | TCAC/- | delins | 1 | |||
rs1555502908 | 1.000 | 0.040 | 16 | 29814425 | frameshift variant | AGTC/- | del | 1 | |||
rs796052941 | 1.000 | 0.040 | 16 | 29814419 | frameshift variant | G/-;GG | delins | 1.4E-05 | 1 |