Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs1557569831 | 0.925 | 0.120 | 1 | 43431458 | splice acceptor variant | A/G | snv | 8 | |||
rs746200792 | 0.925 | 0.120 | 1 | 43437254 | inframe deletion | TGT/- | delins | 8 | |||
rs397517154 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 15 | ||
rs1553329427 | 0.851 | 0.200 | 2 | 31580683 | frameshift variant | A/- | del | 4 | |||
rs1057519925 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 23 | |||
rs61729366 | 0.851 | 0.240 | 4 | 78511299 | missense variant | G/A | snv | 5.2E-03 | 5.8E-03 | 6 | |
rs587784105 | 0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv | 19 | |||
rs1554199368 | 0.827 | 0.160 | 5 | 177256956 | missense variant | C/T | snv | 12 | |||
rs1057518944 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 9 | |||
rs1562134961 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 13 | |||
rs869312712 | 0.925 | 0.360 | 6 | 157084866 | stop gained | C/T | snv | 3 | |||
rs121913355 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 32 | ||
rs759317757 | 0.807 | 0.280 | 8 | 91078416 | frameshift variant | TTAAC/- | delins | 12 | |||
rs1060499548 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 27 | |||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs1057516033 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 9 | |||
rs1554846212 | 0.851 | 0.160 | 10 | 75030037 | missense variant | C/T | snv | 9 | |||
rs1565295267 | 0.827 | 0.360 | 11 | 61774051 | missense variant | C/A | snv | 6 | |||
rs1554904772 | 0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv | 4 | |||
rs121918459 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 46 | |
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 34 | |||
rs397507545 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 16 | ||
rs121918458 | 0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv | 8 | |||
rs121918463 | 0.851 | 0.240 | 12 | 112477651 | missense variant | T/A;C;G | snv | 6 |