Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs751569508 | 1.000 | 17 | 16194473 | missense variant | G/A | snv | 2.5E-05 | 1.4E-05 | 5 | ||
rs778899140 | 0.925 | 6 | 165450268 | missense variant | T/C | snv | 4.0E-06 | 5 | |||
rs1057516037 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 4 | ||||
rs1114167294 | 0.925 | 6 | 41587455 | frameshift variant | T/- | del | 4 | ||||
rs1447313633 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 4 | ||||
rs1554121671 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 4 | ||||
rs1554817910 | 1.000 | 10 | 79216266 | missense variant | A/G | snv | 4 | ||||
rs1558519731 | 0.925 | 2 | 60546204 | missense variant | C/G | snv | 4 | ||||
rs1559296368 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 4 | ||||
rs1569547876 | 1.000 | X | 77841252 | stop gained | G/A | snv | 4 | ||||
rs398123001 | 0.925 | 8 | 143818378 | missense variant | G/A | snv | 4 | ||||
rs531163149 | 1.000 | 16 | 70664131 | missense variant | G/A;C | snv | 1.3E-04; 4.1E-06 | 4 | |||
rs571640983 | 0.925 | 1 | 39967913 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 4 | |||
rs730882201 | 1.000 | 11 | 30336665 | missense variant | G/A | snv | 4 | ||||
rs730882234 | 0.925 | 17 | 59697725 | missense variant | T/G | snv | 4 | ||||
rs750371878 | 0.925 | 6 | 104796666 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | ||
rs752450983 | 0.882 | 19 | 29702977 | missense variant | C/A;G;T | snv | 1.2E-05; 7.2E-05; 1.2E-05 | 4 | |||
rs757167361 | 0.925 | 17 | 2030171 | missense variant | T/A;C;G | snv | 4 | ||||
rs758432471 | 0.925 | 1 | 1806513 | missense variant | C/T | snv | 7.0E-06 | 4 | |||
rs1057518796 | 1.000 | 6 | 33443751 | frameshift variant | C/- | delins | 3 | ||||
rs1277383877 | 0.925 | 20 | 45421428 | missense variant | G/T | snv | 7.0E-06 | 3 | |||
rs145536528 | 1.000 | 5 | 160413521 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 3 | ||
rs1553920383 | 0.925 | 4 | 101032350 | frameshift variant | TC/- | delins | 3 | ||||
rs1564493599 | 1.000 | 9 | 70598463 | missense variant | C/T | snv | 3 | ||||
rs373260156 | 1.000 | X | 77830825 | missense variant | T/C;G | snv | 1.2E-05 | 3 |