Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs786204790 | 1.000 | 0.120 | 14 | 81092608 | splice donor variant | TG/- | delins | 1.4E-05 | 1 | ||
rs104893656 | 0.851 | 0.120 | 2 | 113246826 | missense variant | T/G | snv | 1 | |||
rs2076738 | 0.807 | 0.200 | 8 | 132906843 | missense variant | T/C | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs2076739 | 0.827 | 0.200 | 8 | 132971804 | missense variant | T/A | snv | 1 | |||
rs189261858 | 0.776 | 0.160 | 14 | 81143407 | missense variant | G/A;T | snv | 2.3E-04 | 2 | ||
rs748793969 | 0.827 | 0.120 | 15 | 45106327 | missense variant | G/A;T | snv | 3.2E-05; 6.8E-05 | 1 | ||
rs119472026 | 0.925 | 0.120 | 15 | 45108887 | stop gained | G/A;C | snv | 6.8E-05 | 1 | ||
rs121908086 | 0.925 | 0.120 | 2 | 1493976 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs121908866 | 0.882 | 0.120 | 14 | 81143695 | stop gained | G/A | snv | 1.1E-04 | 2.0E-04 | 1 | |
rs898275076 | 0.925 | 0.120 | 8 | 133022135 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs773248042 | 1.000 | 0.120 | 20 | 59019557 | frameshift variant | G/- | del | 5.6E-05 | 1 | ||
rs1057518950 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 7 | |||
rs121917893 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 2 | |||
rs104894110 | 0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv | 1 | |||
rs759117911 | 1.000 | 0.120 | 20 | 59023906 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs191759494 | 0.882 | 0.120 | 15 | 45108159 | missense variant | C/G;T | snv | 4.0E-06; 1.4E-04 | 2 | ||
rs4774518 | 0.925 | 0.120 | 15 | 45117274 | stop gained | C/G;T | snv | 1.4E-04; 1.7E-02 | 1 | ||
rs560702757 | 1.000 | 0.120 | 20 | 59023745 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
rs181461079 | 0.925 | 0.120 | 15 | 45103960 | missense variant | C/A;T | snv | 4.1E-04; 1.2E-04 | 1 | ||
rs121908082 | 0.925 | 0.120 | 2 | 1487841 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 | 1 | ||
rs121909175 | 0.925 | 0.120 | 19 | 17877840 | stop gained | C/A | snv | 7.0E-06 | 1 | ||
rs370991693 | 0.851 | 0.160 | 8 | 133017916 | missense variant | C/A | snv | 4.4E-05 | 2.8E-05 | 1 | |
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs530719719 | 0.882 | 0.120 | 15 | 45101228 | frameshift variant | ACGA/- | delins | 2.9E-03 | 2.6E-03 | 3 | |
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 |