Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1114167406 | 1.000 | 0.120 | 17 | 50185511 | frameshift variant | G/- | del | 1 | |||
rs72656352 | 1.000 | 0.120 | 17 | 50185535 | frameshift variant | GAATT/- | del | 1 | |||
rs1114167405 | 1.000 | 0.120 | 17 | 50185564 | frameshift variant | -/G;GGGG | delins | 1 | |||
rs1555571529 | 1.000 | 0.120 | 17 | 50185569 | frameshift variant | -/CCACATC | delins | 1 | |||
rs1555571647 | 1.000 | 0.120 | 17 | 50185936 | stop gained | G/A | snv | 1 | |||
rs72656343 | 0.882 | 0.120 | 17 | 50186386 | stop gained | C/A;T | snv | 3 | |||
rs886039880 | 1.000 | 0.120 | 17 | 50186387 | stop gained | C/T | snv | 1 | |||
rs1555571755 | 1.000 | 0.120 | 17 | 50186429 | missense variant | G/T | snv | 1 | |||
rs1555571766 | 1.000 | 0.120 | 17 | 50186497 | stop gained | C/T | snv | 1 | |||
rs1114167402 | 0.925 | 0.120 | 17 | 50186507 | missense variant | C/A;T | snv | 4.0E-06 | 2 | ||
rs72656340 | 1.000 | 0.120 | 17 | 50186664 | missense variant | T/C | snv | 1 | |||
rs1114167401 | 1.000 | 0.120 | 17 | 50186666 | frameshift variant | T/- | delins | 1 | |||
rs1114167400 | 1.000 | 0.120 | 17 | 50186701 | frameshift variant | -/GCCCT | delins | 1 | |||
rs72656339 | 1.000 | 0.120 | 17 | 50186797 | missense variant | A/C | snv | 1 | |||
rs1555571849 | 1.000 | 0.120 | 17 | 50186807 | missense variant | T/C | snv | 1 | |||
rs1567752926 | 1.000 | 0.120 | 17 | 50186813 | frameshift variant | C/- | del | 1 | |||
rs1114167399 | 1.000 | 0.120 | 17 | 50186847 | stop gained | G/A | snv | 1 | |||
rs1567752998 | 1.000 | 0.120 | 17 | 50186861 | frameshift variant | A/- | delins | 1 | |||
rs72656334 | 1.000 | 0.120 | 17 | 50186871 | missense variant | C/A | snv | 1 | |||
rs1567753046 | 1.000 | 0.120 | 17 | 50186887 | frameshift variant | -/G | delins | 1 | |||
rs886042286 | 1.000 | 0.120 | 17 | 50186887 | frameshift variant | A/- | del | 1 | |||
rs1555571874 | 1.000 | 0.120 | 17 | 50186913 | frameshift variant | -/G | delins | 1 | |||
rs72656326 | 1.000 | 0.120 | 17 | 50187014 | splice donor variant | C/T | snv | 1 | |||
rs67815019 | 0.925 | 0.120 | 17 | 50187041 | missense variant | C/A;T | snv | 2 | |||
rs1555571916 | 1.000 | 0.120 | 17 | 50187051 | frameshift variant | A/- | del | 1 |