Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs794729665 | 0.925 | 0.120 | 6 | 24178385 | missense variant | T/G | snv | 2 | |||
rs121908144 | 0.882 | 0.240 | 1 | 54999221 | missense variant | T/C | snv | 2.0E-05 | 3 | ||
rs2274083 | 0.925 | 0.200 | 13 | 20189241 | missense variant | T/C | snv | 1.5E-02 | 5.1E-03 | 3 | |
rs1057519603 | 0.925 | 0.120 | 17 | 18126856 | missense variant | T/C | snv | 2 | |||
rs1057519606 | 0.925 | 0.120 | 17 | 18159349 | splice donor variant | T/C | snv | 2 | |||
rs397514599 | 0.925 | 0.120 | 2 | 55656148 | missense variant | T/C | snv | 2 | |||
rs587777040 | 0.925 | 0.120 | 2 | 85389806 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs776848994 | 1.000 | 0.120 | 13 | 20223480 | start lost | T/C | snv | 1.6E-05 | 4.2E-05 | 2 | |
rs5756795 | 1.000 | 0.120 | 22 | 37726115 | missense variant | T/C | snv | 0.39 | 0.35 | 1 | |
rs756215789 | 1.000 | 0.120 | 11 | 118263084 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs111033293 | 0.763 | 0.280 | 13 | 20189581 | start lost | T/A;C | snv | 3.6E-05 | 4.2E-05 | 10 | |
rs431905513 | 0.925 | 0.120 | 9 | 115040947 | missense variant | T/A | snv | 2 | |||
rs370564476 | 1.000 | 0.120 | 17 | 19024372 | missense variant | T/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs752672077 | 0.925 | 0.120 | 11 | 118263084 | frameshift variant | T/- | del | 8.1E-04 | 6.8E-04 | 2 | |
rs1057519601 | 0.925 | 0.120 | 17 | 18171764 | frameshift variant | G/CCAGGCCCGTGCAGCTC | delins | 2 | |||
rs76737438 | 1.000 | 0.120 | 11 | 2570686 | missense variant | G/C | snv | 1 | |||
rs111033260 | 0.790 | 0.200 | 10 | 54317414 | stop gained | G/A;T | snv | 2.2E-04; 4.0E-06 | 7 | ||
rs200089613 | 0.925 | 0.280 | 5 | 140698056 | missense variant | G/A;T | snv | 8.0E-05; 3.7E-04 | 2 | ||
rs71524353 | 1.000 | 0.120 | 4 | 6300948 | stop gained | G/A;T | snv | 1.2E-03 | 1 | ||
rs202138002 | 0.882 | 0.120 | 12 | 132621535 | missense variant | G/A;C | snv | 1.8E-05 | 3 | ||
rs749431664 | 1.000 | 0.120 | 1 | 34785282 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs121912557 | 0.882 | 0.120 | 6 | 75857198 | missense variant | G/A | snv | 4 | |||
rs1185695012 | 0.925 | 0.200 | 9 | 114403898 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs144446375 | 1.000 | 0.120 | 15 | 80881079 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 2 | |
rs387906893 | 0.925 | 0.120 | 12 | 122216808 | missense variant | G/A | snv | 2 |