Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555462347 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 34 | |||
rs1034395178 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 33 | ||
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs1555639076 | 0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins | 16 | |||
rs1251778848 | 0.790 | 0.400 | 12 | 49039277 | stop gained | G/A | snv | 11 | |||
rs1562127631 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 24 | |||
rs1557036768 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 44 | |||
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 17 | ||
rs1562134961 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 13 | |||
rs387906271 | 0.790 | 0.320 | 8 | 60801598 | splice region variant | G/C | snv | 11 | |||
rs137854544 | 0.827 | 0.320 | 20 | 45894040 | missense variant | T/A | snv | 3.6E-05 | 4.9E-05 | 10 | |
rs397507542 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 9 | |||
rs875989777 | 0.851 | 0.320 | 20 | 45894704 | frameshift variant | AT/- | delins | 9 | |||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 23 | ||
rs1562150844 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 14 | |||
rs1057516264 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 13 | |||
rs1057519369 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 13 | |||
rs1554901898 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 12 | |||
rs775769424 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 11 | ||
rs1064797103 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 9 | |||
rs122460151 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 5 | |
rs770499406 | 0.882 | 0.280 | 5 | 60898350 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 4 | |
rs1555454508 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 18 |