Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1321703512 | 1.000 | 0.120 | 5 | 102477684 | missense variant | A/G | snv | 1.2E-05 | 1 | ||
rs1185695012 | 0.925 | 0.200 | 9 | 114403898 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs397517255 | 0.925 | 0.200 | 9 | 114424483 | stop gained | G/A | snv | 2 | |||
rs431905513 | 0.925 | 0.120 | 9 | 115040947 | missense variant | T/A | snv | 2 | |||
rs752672077 | 0.925 | 0.120 | 11 | 118263084 | frameshift variant | T/- | del | 8.1E-04 | 6.8E-04 | 2 | |
rs756215789 | 1.000 | 0.120 | 11 | 118263084 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs765136820 | 1.000 | 0.120 | 3 | 122001823 | missense variant | C/G | snv | 1.1E-04 | 2.8E-05 | 1 | |
rs387906893 | 0.925 | 0.120 | 12 | 122216808 | missense variant | G/A | snv | 2 | |||
rs202138002 | 0.882 | 0.120 | 12 | 132621535 | missense variant | G/A;C | snv | 1.8E-05 | 3 | ||
rs200089613 | 0.925 | 0.280 | 5 | 140698056 | missense variant | G/A;T | snv | 8.0E-05; 3.7E-04 | 2 | ||
rs1057519603 | 0.925 | 0.120 | 17 | 18126856 | missense variant | T/C | snv | 2 | |||
rs878854415 | 0.925 | 0.120 | 17 | 18144495 | splice acceptor variant | A/G | snv | 2 | |||
rs1057519604 | 0.925 | 0.120 | 17 | 18148937 | frameshift variant | G/- | delins | 2 | |||
rs1057519606 | 0.925 | 0.120 | 17 | 18159349 | splice donor variant | T/C | snv | 2 | |||
rs1057519601 | 0.925 | 0.120 | 17 | 18171764 | frameshift variant | G/CCAGGCCCGTGCAGCTC | delins | 2 | |||
rs1057519607 | 0.925 | 0.120 | 17 | 18178843 | frameshift variant | -/C | delins | 2 | |||
rs370564476 | 1.000 | 0.120 | 17 | 19024372 | missense variant | T/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs2274083 | 0.925 | 0.200 | 13 | 20189241 | missense variant | T/C | snv | 1.5E-02 | 5.1E-03 | 3 | |
rs28931593 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 9 | ||
rs1064797088 | 0.925 | 0.120 | 13 | 20189446 | missense variant | C/T | snv | 2 | |||
rs72474224 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 18 | ||
rs35887622 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 8 | ||
rs2274084 | 0.882 | 0.240 | 13 | 20189503 | missense variant | C/T | snv | 5.4E-02 | 2.2E-02 | 6 | |
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs111033293 | 0.763 | 0.280 | 13 | 20189581 | start lost | T/A;C | snv | 3.6E-05 | 4.2E-05 | 10 |