Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121917757 | 0.851 | 0.200 | 11 | 534259 | stop gained | G/A;T | snv | 1.2E-05 | 4 | ||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 73 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 73 | |||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 48 | |||
rs727503094 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 41 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 29 | |||
rs104894231 | 0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv | 9 | |||
rs121917759 | 0.790 | 0.480 | 11 | 533466 | missense variant | G/A | snv | 8 | |||
rs121917758 | 0.851 | 0.160 | 11 | 533883 | missense variant | G/A | snv | 4 | |||
rs730880460 | 0.882 | 0.120 | 11 | 533877 | missense variant | C/A;T | snv | 3 | |||
rs754945616 | 0.882 | 0.120 | 5 | 87268639 | missense variant | G/T | snv | 4.2E-06 | 3 | ||
rs121917756 | 0.925 | 0.120 | 11 | 533869 | missense variant | C/T | snv | 2 | |||
rs727503093 | 0.925 | 0.160 | 11 | 533881 | missense variant | C/T | snv | 2 | |||
rs104894227 | 1.000 | 0.080 | 11 | 533553 | missense variant | T/C | snv | 1 | |||
rs367634266 | 1.000 | 0.080 | 7 | 74028222 | missense variant | G/A;T | snv | 4.1E-06; 4.6E-05 | 1.2E-04 | 1 | |
rs727504747 | 1.000 | 0.080 | 11 | 533880 | missense variant | GC/AG | mnv | 1 | |||
rs770859592 | 1.000 | 0.080 | 9 | 21974599 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs773459232 | 1.000 | 0.080 | 9 | 21994286 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs774248606 | 1.000 | 0.080 | 5 | 87268482 | missense variant | G/A | snv | 6.3E-06 | 1 | ||
rs35613389 | 1.000 | 0.080 | 11 | 533309 | frameshift variant | G/-;GG | delins | 1 | |||
rs398122809 | 1.000 | 0.080 | 11 | 534212 | inframe insertion | -/TCT | delins | 1 | |||
rs587777239 | 1.000 | 0.080 | 11 | 533848 | inframe insertion | -/GTCCCGCATGGCGCTGTACTC | delins | 1 | |||
rs398122808 | 1.000 | 0.080 | 11 | 534210 | coding sequence variant | -/CTC | delins | 1 |