Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs376493409 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 12 | ||
rs786205508 | 0.851 | 0.200 | 17 | 58208542 | stop gained | G/A | snv | 5 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs886039806 | 0.851 | 0.160 | 14 | 58467887 | missense variant | T/A;C;G | snv | 8 | |||
rs886039811 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs886039804 | 0.882 | 0.120 | 11 | 61366050 | missense variant | A/G | snv | 4 | |||
rs886039805 | 0.925 | 0.120 | 12 | 88129872 | frameshift variant | AA/- | delins | 5 | |||
rs1555202126 | 0.925 | 0.120 | 12 | 88071929 | splice region variant | G/C | snv | 2 | |||
rs886039791 | 0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins | 5 |