Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs730882200 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 3 | |||
rs730882225 | 0.925 | 0.040 | 1 | 235980495 | splice donor variant | C/T | snv | 4.0E-06 | 3 | ||
rs730882247 | 0.882 | 0.040 | 17 | 50277743 | splice region variant | A/G | snv | 3 | |||
rs398122368 | 0.925 | 0.040 | 22 | 23791772 | missense variant | G/A;C | snv | 1 | |||
rs730882250 | 0.882 | 0.080 | 17 | 2039760 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs776587763 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 6 | ||
rs1060499542 | 0.827 | 0.120 | 5 | 150125556 | missense variant | A/G | snv | 3 | |||
rs869312714 | 0.925 | 0.120 | 16 | 3729810 | missense variant | C/A | snv | 3 | |||
rs367543077 | 0.882 | 0.120 | 1 | 235450286 | stop gained | G/A | snv | 1 | |||
rs778740017 | 0.925 | 0.120 | 19 | 35651301 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs121918494 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 24 | |||
rs1131692230 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 9 | |||
rs267607116 | 0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv | 8 | |||
rs1554555063 | 0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv | 7 | |||
rs730882245 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 6 | |||
rs1569234334 | 0.851 | 0.200 | X | 70329420 | missense variant | G/T | snv | 5 | |||
rs137852520 | 0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv | 2 | |||
rs869025667 | 0.827 | 0.200 | 3 | 10149916 | missense variant | T/C | snv | 1 | |||
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs1085308046 | 0.790 | 0.240 | 10 | 87933160 | missense variant | T/C;G | snv | 9 | |||
rs1563406024 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 4 | |||
rs866445127 | 0.851 | 0.240 | 17 | 31352348 | stop gained | C/T | snv | 3 | |||
rs1057518879 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 19 | |||
rs587783446 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 19 | |||
rs1057519946 | 0.732 | 0.280 | 19 | 52212729 | missense variant | C/G;T | snv | 17 |