Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs1555639076 | 0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins | 16 | |||
rs1554208945 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 26 | |||
rs794727931 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 19 | |||
rs1554333853 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 54 | |||
rs398122394 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 17 | |||
rs1569309484 | 0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv | 13 | |||
rs1555398673 | 0.807 | 0.200 | 15 | 48488433 | missense variant | A/G | snv | 7 | |||
rs864309486 | 0.763 | 0.320 | 6 | 24777262 | stop gained | A/T | snv | 21 | |||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs1566785444 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 20 | |||
rs61752129 | 0.776 | 0.240 | 22 | 18078405 | frameshift variant | C/-;CC | delins | 14 | |||
rs1553761113 | 0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv | 5 | |||
rs121918487 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 25 | |||
rs199469465 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 50 | |||
rs866294686 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 43 | |||
rs121908425 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 14 | ||
rs397515789 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 10 | |||
rs61750420 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 52 | |
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs771409809 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 19 | |
rs104894578 | 0.807 | 0.280 | 17 | 70175691 | missense variant | C/T | snv | 6 | |||
rs1555565774 | 0.807 | 0.360 | 17 | 44862753 | frameshift variant | G/- | delins | 16 | |||
rs1060499548 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 27 | |||
rs112550005 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 18 |