Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516230 | 0.925 | 0.080 | 1 | 21554124 | frameshift variant | AACT/- | delins | 2 | |||
rs515726166 | 1.000 | 0.040 | 12 | 109784362 | frameshift variant | TCATTCTTGCCCGGGTC/- | delins | 2 | |||
rs515726154 | 1.000 | 0.040 | 12 | 109794406 | inframe deletion | AAG/- | delins | 1 | |||
rs515726155 | 1.000 | 0.040 | 12 | 109793945 | inframe insertion | -/GGA | delins | 1 | |||
rs751994699 | 1.000 | 0.040 | 1 | 21563170 | frameshift variant | GG/- | delins | 4.0E-06 | 2.1E-05 | 1 | |
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 45 | |||
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 | |||
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs121913105 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 30 | |||
rs28933068 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 30 | ||
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 25 | ||
rs121918130 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 18 | ||
rs1014959895 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 16 | ||
rs1251713297 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 15 | ||
rs121912633 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 10 | ||
rs369634007 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 10 | |
rs587777512 | 0.827 | 0.320 | 4 | 150583180 | missense variant | C/G;T | snv | 7 | |||
rs749621890 | 0.851 | 0.040 | 8 | 28717012 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs886041093 | 0.827 | 0.280 | 9 | 137815998 | missense variant | G/A | snv | 7 | |||
rs77975504 | 0.827 | 0.280 | 12 | 109792695 | missense variant | C/T | snv | 6 | |||
rs121912637 | 0.851 | 0.160 | 12 | 109784378 | missense variant | G/A;C | snv | 5 | |||
rs267607149 | 0.851 | 0.120 | 12 | 109784385 | missense variant | C/T | snv | 5 | |||
rs387906904 | 0.851 | 0.080 | 12 | 109803009 | missense variant | G/A | snv | 5 | |||
rs864309531 | 0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv | 5 |