Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397508120 | 0.882 | 0.120 | 11 | 2570734 | frameshift variant | G/- | delins | 3 | |||
rs794728565 | 0.882 | 0.120 | 11 | 2527943 | frameshift variant | G/- | delins | 3 | |||
rs12720449 | 0.925 | 0.120 | 11 | 2588804 | missense variant | C/A;G;T | snv | 7.2E-05; 7.5E-03; 2.0E-05 | 2 | ||
rs199473394 | 0.925 | 0.120 | 11 | 2570685 | missense variant | G/A | snv | 7.0E-06 | 2 | ||
rs794728568 | 0.925 | 0.120 | 11 | 2570707 | missense variant | G/A;T | snv | 2 | |||
rs199473447 | 1.000 | 0.120 | 11 | 2445412 | missense variant | A/T | snv | 1 | |||
rs794728530 | 1.000 | 0.120 | 11 | 2768851 | stop gained | G/T | snv | 1 | |||
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs199472910 | 0.827 | 0.120 | 7 | 150952508 | missense variant | G/A | snv | 1.2E-05 | 5 | ||
rs199472936 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 5 | |||
rs199473428 | 0.851 | 0.120 | 7 | 150951643 | missense variant | C/A;G;T | snv | 8.0E-06 | 4 | ||
rs199472944 | 0.882 | 0.120 | 7 | 150951552 | missense variant | G/A | snv | 3 | |||
rs199472990 | 0.882 | 0.120 | 7 | 150950312 | missense variant | G/A | snv | 7.0E-06 | 3 | ||
rs199473522 | 0.882 | 0.120 | 7 | 150951583 | missense variant | C/T | snv | 3 | |||
rs199473538 | 0.882 | 0.120 | 7 | 150948981 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs199473507 | 0.925 | 0.120 | 7 | 150952723 | missense variant | T/C | snv | 2 | |||
rs769505732 | 0.925 | 0.120 | 7 | 150952696 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs199472960 | 1.000 | 0.120 | 7 | 150951496 | missense variant | T/C | snv | 1 | |||
rs1805127 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 17 | |
rs1805128 | 0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 | 10 | ||
rs74315445 | 0.807 | 0.120 | 21 | 34449409 | missense variant | C/T | snv | 6.8E-05 | 5.3E-05 | 6 | |
rs199473359 | 1.000 | 0.120 | 21 | 34449393 | missense variant | T/A;C | snv | 8.0E-06 | 1 | ||
rs398124647 | 0.807 | 0.120 | 2 | 47161851 | missense variant | T/A;C | snv | 6 |