Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386834061 | 0.925 | 0.360 | 8 | 99868312 | stop gained | C/T | snv | 2.1E-05 | 10 | ||
rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
rs1562456317 | 6 | 99508705 | missense variant | A/C | snv | 1 | |||||
rs1562391520 | 6 | 99482871 | missense variant | C/T | snv | 1 | |||||
rs1562308994 | 6 | 99446205 | missense variant | T/C | snv | 1 | |||||
rs141844660 | 6 | 99443648 | stop gained | C/A | snv | 1.3E-04 | 1.2E-04 | 1 | |||
rs368869806 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 97 | |
rs1563765580 | 8 | 92017274 | frameshift variant | -/A | ins | 1 | |||||
rs1400419650 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 38 | |
rs1555386022 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 38 | |||
rs267606959 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 15 | ||
rs879253753 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 19 | |||
rs775707132 | 4 | 8612120 | missense variant | G/A;T | snv | 1.6E-05; 2.0E-05 | 1 | ||||
rs375633720 | 4 | 8601494 | missense variant | C/T | snv | 2.8E-05 | 4.2E-05 | 1 | |||
rs1553154130 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 18 | |||
rs1441937959 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 19 | ||
rs312262690 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 28 | ||
rs531047390 | 1.000 | 0.120 | 14 | 78968349 | splice region variant | A/G | snv | 2.0E-04 | 2.1E-05 | 2 | |
rs1057519451 | 1.000 | 0.120 | 14 | 78709310 | missense variant | A/G | snv | 1.4E-05 | 2 | ||
rs768564744 | 17 | 78525107 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-05 | 1 | ||||
rs763505389 | 17 | 78491549 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 1 | |||
rs1557106484 | X | 77633315 | missense variant | C/A | snv | 7 | |||||
rs1555377415 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 18 | |||
rs121912651 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs1567499068 | 0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins | 6 |