Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs515726155 | 1.000 | 0.040 | 12 | 109793945 | inframe insertion | -/GGA | delins | 1 | |||
rs78311289 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 25 | ||
rs121913105 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 30 | |||
rs369634007 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 10 | |
rs774568856 | 0.882 | 0.200 | 6 | 83174481 | missense variant | A/G | snv | 1.7E-05 | 7.0E-06 | 4 | |
rs515726158 | 0.925 | 0.120 | 12 | 109792702 | missense variant | A/G | snv | 2 | |||
rs515726159 | 0.925 | 0.080 | 12 | 109792689 | missense variant | A/G | snv | 2 | |||
rs515726163 | 0.925 | 0.120 | 12 | 109792401 | missense variant | A/G | snv | 2 | |||
rs515726172 | 0.925 | 0.120 | 12 | 109798774 | missense variant | A/G | snv | 2 | |||
rs1057516230 | 0.925 | 0.080 | 1 | 21554124 | frameshift variant | AACT/- | delins | 2 | |||
rs515726154 | 1.000 | 0.040 | 12 | 109794406 | inframe deletion | AAG/- | delins | 1 | |||
rs1555386022 | 0.708 | 0.320 | 14 | 92003418 | splice donor variant | C/A | snv | 38 | |||
rs1251713297 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 15 | ||
rs397514474 | 0.925 | 0.120 | 12 | 109814565 | missense variant | C/A | snv | 3 | |||
rs869312694 | 0.925 | 0.120 | 15 | 23644535 | stop gained | C/A | snv | 3 | |||
rs121912635 | 0.925 | 0.080 | 12 | 109788462 | missense variant | C/A | snv | 2 | |||
rs515726152 | 0.925 | 0.120 | 12 | 109798742 | missense variant | C/A | snv | 2 | |||
rs515726160 | 0.925 | 0.080 | 12 | 109792678 | missense variant | C/A | snv | 2 | |||
rs28933068 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 30 | ||
rs1400419650 | 0.708 | 0.320 | 14 | 92005938 | stop gained | C/A;T | snv | 4.0E-06 | 1.4E-05 | 38 | |
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs121912633 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 10 | ||
rs515726169 | 1.000 | 0.040 | 12 | 109800754 | missense variant | C/G | snv | 1 | |||
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 |