Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 36 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 30 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 23 | |||
rs121913233 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 20 | |||
rs28933406 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 17 | |||
rs121913496 | 0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv | 11 | |||
rs121917759 | 0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv | 7 | |||
rs104894231 | 0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv | 7 | |||
rs121917757 | 0.851 | 0.200 | 11 | 534259 | stop gained | G/A;T | snv | 1.2E-05 | 2 | ||
rs727503093 | 0.925 | 0.160 | 11 | 533881 | missense variant | C/T | snv | 2 | |||
rs1057519855 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 1 | |||
rs104894227 | 1.000 | 0.080 | 11 | 533553 | missense variant | T/C | snv | 1 | |||
rs398122809 | 1.000 | 0.080 | 11 | 534212 | inframe insertion | -/TCT | delins | 1 | |||
rs398122808 | 1.000 | 0.080 | 11 | 534210 | coding sequence variant | -/CTC | delins | 1 | |||
rs121917758 | 0.851 | 0.160 | 11 | 533883 | missense variant | G/A | snv | 1 | |||
rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 1 | |||
rs587777239 | 1.000 | 0.080 | 11 | 533848 | inframe insertion | -/GTCCCGCATGGCGCTGTACTC | delins | 1 | |||
rs727504747 | 1.000 | 0.080 | 11 | 533880 | missense variant | GC/AG | mnv | 1 | |||
rs35613389 | 1.000 | 0.080 | 11 | 533309 | frameshift variant | G/-;GG | delins | 1 | |||
rs121917756 | 0.925 | 0.120 | 11 | 533869 | missense variant | C/T | snv | 1 |