Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518843 | 0.790 | 0.240 | 14 | 87988523 | missense variant | C/T | snv | 19 | |||
rs1057523354 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 13 | |||
rs1561904557 | 0.851 | 0.160 | 5 | 150056050 | missense variant | GGAT/TGCC | mnv | 9 | |||
rs777476179 | 0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 | 5 | ||
rs1555384318 | 0.925 | 0.120 | 14 | 87992971 | missense variant | C/T | snv | 2 | |||
rs730882248 | 0.925 | 0.160 | 7 | 5711761 | splice region variant | C/T | snv | 2 | |||
rs1554988032 | 0.925 | 0.120 | 11 | 76861074 | missense variant | A/G | snv | 1 | |||
rs371334506 | 0.882 | 0.120 | 15 | 44565954 | missense variant | A/C;G | snv | 4.0E-06 | 5 | ||
rs776679653 | 0.827 | 0.200 | 9 | 86266174 | missense variant | C/T | snv | 4.2E-06 | 11 | ||
rs761953453 | 1.000 | 0.120 | X | 130130094 | missense variant | G/A | snv | 5.5E-06 | 9.5E-06 | 1 | |
rs377274761 | 0.776 | 0.240 | 14 | 87968393 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 20 | |
rs769235753 | 0.925 | 0.120 | 6 | 73644582 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 4 | |
rs377510027 | 0.827 | 0.240 | 2 | 135911447 | missense variant | A/G | snv | 1.2E-05 | 6 | ||
rs765061840 | 0.882 | 0.120 | 15 | 44633619 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 6 | |
rs113994063 | 0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 | 5 | |
rs727503786 | 0.827 | 0.280 | X | 153736231 | missense variant | C/A;G;T | snv | 1.6E-05 | 6 | ||
rs267608670 | 0.925 | 0.240 | 10 | 78007761 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs74315475 | 0.851 | 0.120 | 22 | 50626033 | missense variant | T/A | snv | 3.4E-05 | 6.3E-05 | 3 | |
rs202101384 | 0.851 | 0.160 | 1 | 17044818 | missense variant | T/A | snv | 4.4E-05 | 1.4E-05 | 3 | |
rs768180196 | 1.000 | 0.120 | 1 | 224190258 | missense variant | A/G | snv | 5.7E-05 | 7.0E-06 | 1 | |
rs121908345 | 0.827 | 0.240 | 22 | 50080391 | missense variant | G/A | snv | 1.3E-04 | 6.3E-05 | 1 |