Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519942 | 0.724 | 0.320 | 3 | 179203760 | missense variant | G/A | snv | 16 | |||
rs121913357 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 12 | |||
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 | |||
rs1057519941 | 0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv | 10 | |||
rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 10 | ||
rs869025608 | 0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv | 9 | |||
rs1057519953 | 0.807 | 0.200 | 3 | 49375576 | missense variant | C/A;T | snv | 8 | |||
rs267601394 | 0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv | 8 | |||
rs398122820 | 0.790 | 0.240 | 15 | 44715641 | missense variant | G/A | snv | 8 | |||
rs1057519909 | 0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv | 7 | |||
rs267601395 | 0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv | 7 | |||
rs756091827 | 0.851 | 0.200 | 8 | 127738435 | missense variant | C/G;T | snv | 6 | |||
rs760228510 | 0.925 | 0.240 | 7 | 5999182 | stop gained | G/A;C | snv | 6 | |||
rs80359306 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 6 | |||
rs1057519918 | 0.851 | 0.200 | 8 | 127738390 | missense variant | C/T | snv | 5 | |||
rs1057519952 | 0.882 | 0.160 | 3 | 49375577 | missense variant | G/A | snv | 5 | |||
rs2070673 | 0.827 | 0.160 | 10 | 133527063 | non coding transcript exon variant | A/T | snv | 0.67 | 5 | ||
rs750664148 | 0.851 | 0.200 | 8 | 127738434 | missense variant | A/C;G | snv | 5 | |||
rs1057519954 | 0.882 | 0.160 | 3 | 49375465 | missense variant | T/A;C;G | snv | 4 | |||
rs1353759920 | 0.851 | 0.120 | 1 | 3707593 | missense variant | C/A | snv | 2.1E-05 | 4 | ||
rs1057519894 | 0.925 | 0.160 | 7 | 148811650 | missense variant | T/A;G | snv | 2 | |||
rs121908689 | 0.925 | 0.120 | 1 | 46272758 | missense variant | T/A | snv | 2 | |||
rs28936699 | 1.000 | 0.120 | 2 | 201209388 | missense variant | C/T | snv | 1 |