Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs797045283 | 0.827 | 0.320 | 6 | 157207109 | stop gained | C/T | snv | 11 | |||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 42 | ||
rs180177039 | 0.851 | 0.160 | 7 | 140778006 | missense variant | T/A;C;G | snv | 12 | |||
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
rs1554603293 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 17 | |||
rs779027563 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 58 | |
rs1555575860 | 0.732 | 0.240 | 16 | 70496367 | missense variant | C/G;T | snv | 31 | |||
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 29 | |||
rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
rs1567010427 | 0.882 | 14 | 102010824 | missense variant | G/A | snv | 11 | ||||
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs1232880706 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 36 | |||
rs397514698 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 41 | |||
rs137854539 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 27 | |||
rs1559810905 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 9 | |||
rs1555727493 | 0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins | 46 | |||
rs1034395178 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 33 | ||
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 29 | |||
rs780533096 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 44 | ||
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs1555793199 | 0.882 | 0.240 | 18 | 49837750 | frameshift variant | G/- | delins | 4 | |||
rs199476133 | 0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv | 14 |