Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894629 | 0.925 | 0.160 | 17 | 47946681 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs1057516094 | 0.925 | 0.040 | 20 | 63442420 | missense variant | G/A | snv | 2 | |||
rs1057516099 | 0.925 | 0.040 | 20 | 63439624 | missense variant | C/T | snv | 2 | |||
rs1057518759 | 1.000 | 0.040 | X | 18604394 | frameshift variant | -/GC | delins | 2 | |||
rs1057518795 | 1.000 | 0.040 | 16 | 78432614 | frameshift variant | G/- | del | 1 | |||
rs1057518801 | 0.851 | 0.080 | 2 | 165130238 | missense variant | A/G | snv | 3 | |||
rs1057518816 | 1.000 | 0.040 | 11 | 72195389 | missense variant | G/A | snv | 1 | |||
rs1057518928 | 1.000 | 0.040 | 12 | 23665471 | missense variant | G/A | snv | 3 | |||
rs1057518985 | 1.000 | 0.040 | 9 | 127673233 | missense variant | C/A;T | snv | 1 | |||
rs1057519000 | 1.000 | 0.040 | X | 48905400 | frameshift variant | CACTGCAGCC/- | delins | 1 | |||
rs1057519269 | 0.925 | 0.040 | 15 | 82679729 | splice region variant | C/T | snv | 2 | |||
rs1057519270 | 0.925 | 0.040 | 15 | 82680174 | splice donor variant | C/G | snv | 2 | |||
rs1057519452 | 1.000 | 0.040 | 3 | 49115756 | missense variant | C/A;T | snv | 4.0E-06 | 1 | ||
rs1057519524 | 0.925 | 0.040 | 2 | 165386837 | missense variant | T/C | snv | 2 | |||
rs1057519526 | 0.925 | 0.040 | 2 | 165344679 | missense variant | C/T | snv | 2 | |||
rs1057519527 | 0.925 | 0.040 | 2 | 165374743 | missense variant | G/A | snv | 2 | |||
rs1057519528 | 0.925 | 0.040 | 2 | 165310376 | missense variant | G/A | snv | 2 | |||
rs1057519529 | 1.000 | 0.040 | 2 | 166043864 | missense variant | C/G | snv | 1 | |||
rs1057519535 | 0.925 | 0.040 | 20 | 63439652 | missense variant | C/A;G | snv | 2 | |||
rs1057519536 | 0.925 | 0.040 | 20 | 63442424 | missense variant | A/T | snv | 2 | |||
rs1057519537 | 1.000 | 0.040 | 9 | 127682423 | stop gained | G/A | snv | 1 | |||
rs1057519538 | 1.000 | 0.040 | 9 | 127651622 | inframe deletion | AAA/- | del | 1 | |||
rs1057519539 | 1.000 | 0.040 | 9 | 127678479 | stop gained | G/A;T | snv | 1 | |||
rs1057519540 | 0.925 | 0.160 | 12 | 51768895 | missense variant | A/G | snv | 2 | |||
rs1057519542 | 1.000 | 0.040 | X | 18604372 | frameshift variant | -/GACC | delins | 1 |