Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs1057518879 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 19 | |||
rs730882225 | 0.925 | 0.040 | 1 | 235980495 | splice donor variant | C/T | snv | 4.0E-06 | 3 | ||
rs367543077 | 0.882 | 0.120 | 1 | 235450286 | stop gained | G/A | snv | 1 | |||
rs869025667 | 0.827 | 0.200 | 3 | 10149916 | missense variant | T/C | snv | 1 | |||
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 30 | ||
rs730882245 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 6 | |||
rs1060499542 | 0.827 | 0.120 | 5 | 150125556 | missense variant | A/G | snv | 3 | |||
rs587783446 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 19 | |||
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 | |||
rs1563406024 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 4 | |||
rs797045412 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 17 | |||
rs121918494 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 24 | |||
rs1085308046 | 0.790 | 0.240 | 10 | 87933160 | missense variant | T/C;G | snv | 9 | |||
rs776587763 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 6 | ||
rs562015640 | 0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 | 1 | ||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 52 | |||
rs121918464 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 7 | |||
rs387906597 | 0.851 | 0.280 | 14 | 53950667 | stop gained | G/A;C | snv | 8.0E-06 | 2 | ||
rs869312714 | 0.925 | 0.120 | 16 | 3729810 | missense variant | C/A | snv | 3 | |||
rs779027563 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 58 | |
rs886039811 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs730882250 | 0.882 | 0.080 | 17 | 2039760 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 5 | ||
rs730882247 | 0.882 | 0.040 | 17 | 50277743 | splice region variant | A/G | snv | 3 |