Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1565651568 | 1.000 | 0.120 | 11 | 64809787 | frameshift variant | -/A | ins | 1 | |||
rs386134245 | 1.000 | 0.120 | 11 | 64806267 | frameshift variant | -/A | delins | 1 | |||
rs386134261 | 1.000 | 0.120 | 11 | 64806325 | frameshift variant | -/A | delins | 1 | |||
rs386134253 | 1.000 | 0.120 | 11 | 64809857 | frameshift variant | -/A;AA | delins | 1 | |||
rs386134255 | 1.000 | 0.120 | 11 | 64808079 | frameshift variant | -/AATT | ins | 1 | |||
rs1114167536 | 1.000 | 0.120 | 11 | 64804753 | frameshift variant | -/ACGGCTCC | delins | 2 | |||
rs1555165488 | 0.925 | 0.120 | 11 | 64807566 | frameshift variant | -/AGCTCCA | delins | 2 | |||
rs1565635941 | 1.000 | 0.120 | 11 | 64804492 | frameshift variant | -/C | delins | 1 | |||
rs1555166494 | 1.000 | 0.120 | 11 | 64809825 | frameshift variant | -/CGGTG | delins | 1 | |||
rs1555163780 | 1.000 | 0.120 | 11 | 64804762 | frameshift variant | -/CTCGGCCGCCTCGGCCTCTCGGC | delins | 1 | |||
rs1114167531 | 1.000 | 0.120 | 11 | 64804777 | frameshift variant | -/CTCTCGGC | delins | 2 | |||
rs1555164184 | 1.000 | 0.120 | 11 | 64805072 | frameshift variant | -/G | delins | 1 | |||
rs1555166609 | 1.000 | 0.120 | 11 | 64809909 | frameshift variant | -/GCTGG | delins | 1 | |||
rs1114167524 | 1.000 | 0.120 | 11 | 64805159 | frameshift variant | -/GGAC | ins | 2 | |||
rs730882136 | 1.000 | 0.120 | 11 | 64809903 | frameshift variant | -/GGGGC | delins | 1 | |||
rs1555164430 | 1.000 | 0.120 | 11 | 64805190 | frameshift variant | -/T | delins | 1 | |||
rs1565651223 | 1.000 | 0.120 | 11 | 64809724 | frameshift variant | A/- | del | 1 | |||
rs104894256 | 1.000 | 0.120 | 11 | 64810045 | missense variant | A/C | snv | 1 | |||
rs1114167543 | 1.000 | 0.120 | 11 | 64809680 | missense variant | A/C | snv | 1 | |||
rs1555164115 | 1.000 | 0.120 | 11 | 64805032 | splice donor variant | A/G | snv | 1 | |||
rs1555164946 | 1.000 | 0.120 | 11 | 64806230 | splice donor variant | A/G | snv | 1 | |||
rs386134256 | 1.000 | 0.120 | 11 | 64808042 | missense variant | A/G | snv | 1 | |||
rs886039415 | 1.000 | 0.120 | 11 | 64807667 | missense variant | A/G | snv | 1 | |||
rs77724903 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 10 | ||
rs104894259 | 1.000 | 0.120 | 11 | 64805078 | missense variant | A/G;T | snv | 2 |