Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1485894376 | 1.000 | 0.040 | 3 | 50375876 | missense variant | C/G;T | snv | 1 | |||
rs1057519542 | 1.000 | 0.040 | X | 18604372 | frameshift variant | -/GACC | delins | 1 | |||
rs1569219844 | 1.000 | 0.040 | X | 18604845 | frameshift variant | AG/- | del | 1 | |||
rs1057518816 | 1.000 | 0.040 | 11 | 72195389 | missense variant | G/A | snv | 1 | |||
rs121909674 | 0.790 | 0.080 | 5 | 162153132 | stop gained | C/T | snv | 1 | |||
rs397518447 | 0.925 | 0.040 | 16 | 9829585 | missense variant | G/T | snv | 1 | |||
rs886040861 | 0.925 | 0.040 | 19 | 48419722 | missense variant | G/A | snv | 1 | |||
rs1135401732 | 1.000 | 0.040 | 1 | 244859303 | stop gained | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs779453109 | 1.000 | 0.040 | 1 | 244863648 | frameshift variant | GCCTTCCGCC/- | delins | 1.2E-05 | 2.8E-05 | 1 | |
rs1568658507 | 1.000 | 0.040 | 20 | 49482353 | missense variant | T/C | snv | 1 | |||
rs1569017045 | 1.000 | 0.040 | 20 | 49374359 | missense variant | C/T | snv | 1 | |||
rs1569017123 | 1.000 | 0.040 | 20 | 49374421 | missense variant | T/C | snv | 1 | |||
rs1569017143 | 1.000 | 0.040 | 20 | 49374428 | missense variant | C/G | snv | 1 | |||
rs1569017174 | 1.000 | 0.040 | 20 | 49374455 | missense variant | A/G | snv | 1 | |||
rs1569017337 | 1.000 | 0.040 | 20 | 49374703 | frameshift variant | A/- | del | 1 | |||
rs1555850842 | 1.000 | 0.040 | 20 | 63407136 | frameshift variant | -/G | delins | 1 | |||
rs727503973 | 0.925 | 0.040 | 20 | 63439665 | missense variant | G/A;T | snv | 1 | |||
rs1179351306 | 1.000 | 0.040 | 20 | 49374576 | stop gained | G/A;C | snv | 8.0E-06 | 1 | ||
rs1555889090 | 1.000 | 0.040 | 20 | 49374416 | missense variant | C/G;T | snv | 1 | |||
rs1569017015 | 1.000 | 0.040 | 20 | 49374312 | missense variant | G/T | snv | 1 | |||
rs1569017073 | 1.000 | 0.040 | 20 | 49374380 | missense variant | C/T | snv | 1 | |||
rs1569017148 | 1.000 | 0.040 | 20 | 49374430 | missense variant | G/T | snv | 1 | |||
rs1569017205 | 1.000 | 0.040 | 20 | 49374515 | missense variant | C/A | snv | 1 | |||
rs1569017257 | 1.000 | 0.040 | 20 | 49374592 | missense variant | G/A | snv | 1 | |||
rs104894629 | 0.925 | 0.160 | 17 | 47946681 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 |