Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1023835002 | 0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv | 10 | |||
rs1057519877 | 0.763 | 0.280 | 15 | 44711549 | start lost | G/A | snv | 10 | |||
rs1057519879 | 0.763 | 0.280 | 15 | 44711548 | start lost | T/C;G | snv | 10 | |||
rs1057519996 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 19 | |||
rs866775781 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 17 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs104894104 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 7 | |||
rs104894226 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 29 | |||
rs104894228 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 48 | |||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs1057519882 | 0.807 | 0.200 | 9 | 21974678 | missense variant | C/A | snv | 7 | |||
rs1057519883 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 14 | |||
rs1057519884 | 0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv | 11 | |||
rs1057519889 | 0.807 | 0.200 | 22 | 41169525 | missense variant | G/A;T | snv | 6 | |||
rs1057519895 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 17 | |||
rs1057519896 | 0.742 | 0.320 | 4 | 152326136 | missense variant | C/A;T | snv | 12 | |||
rs1057519920 | 0.790 | 0.160 | 2 | 177234232 | missense variant | C/A;G;T | snv | 7 | |||
rs1057519921 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 10 | |||
rs1057519922 | 0.790 | 0.200 | 2 | 177234082 | missense variant | C/G;T | snv | 7 | |||
rs1057519923 | 0.807 | 0.200 | 2 | 177234081 | missense variant | T/A | snv | 6 | |||
rs1057519924 | 0.807 | 0.200 | 2 | 177234080 | missense variant | C/A | snv | 6 |