Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs866814797 | 1.000 | 0.120 | 2 | 88557894 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs745605543 | 0.925 | 0.120 | 1 | 40784314 | missense variant | C/T | snv | 2.7E-05 | 7.0E-06 | 2 | |
rs199472784 | 1.000 | 0.120 | 11 | 2661997 | missense variant | C/T | snv | 1 | |||
rs199472819 | 1.000 | 0.120 | 11 | 2847827 | missense variant | T/A | snv | 1 | |||
rs199473484 | 1.000 | 0.120 | 11 | 2847875 | missense variant | G/A | snv | 1.6E-05 | 4.9E-05 | 1 | |
rs34516117 | 1.000 | 0.120 | 11 | 2847771 | missense variant | C/T | snv | 1.6E-04 | 6.1E-04 | 1 | |
rs147445322 | 0.882 | 0.120 | 11 | 2847803 | missense variant | G/A;T | snv | 7.2E-05; 5.5E-06 | 4 | ||
rs397508104 | 0.925 | 0.120 | 11 | 2847859 | frameshift variant | C/-;CC | delins | 2 | |||
rs199472821 | 1.000 | 0.120 | 11 | 2847848 | missense variant | G/A | snv | 1.1E-05 | 1.4E-05 | 1 | |
rs12720458 | 0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 | 20 | |
rs199473457 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 12 | |||
rs120074193 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 7 | ||
rs12720459 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 7 | |||
rs17215500 | 0.807 | 0.240 | 11 | 2768881 | stop gained | C/G;T | snv | 1.0E-04 | 7 | ||
rs199472709 | 0.790 | 0.120 | 11 | 2572021 | missense variant | G/A;T | snv | 7 | |||
rs17221854 | 0.807 | 0.120 | 11 | 2777990 | missense variant | C/T | snv | 1.6E-05 | 6 | ||
rs199472795 | 0.807 | 0.120 | 11 | 2775984 | missense variant | C/T | snv | 7.0E-06 | 6 | ||
rs397508097 | 0.807 | 0.120 | 11 | 2768917 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 6 | |
rs143709408 | 0.882 | 0.200 | 11 | 2527999 | missense variant | C/T | snv | 1.6E-04 | 3.6E-04 | 5 | |
rs151344631 | 0.827 | 0.200 | 11 | 2571333 | missense variant | G/A | snv | 8.0E-06 | 3.5E-05 | 5 | |
rs199472730 | 0.882 | 0.120 | 11 | 2572895 | missense variant | C/G;T | snv | 5 | |||
rs120074186 | 0.851 | 0.120 | 11 | 2572979 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 | 4 | ||
rs120074189 | 0.851 | 0.120 | 11 | 2778003 | missense variant | C/T | snv | 4 | |||
rs120074196 | 0.882 | 0.120 | 11 | 2572057 | missense variant | G/A;C | snv | 4.0E-06 | 4 | ||
rs199472696 | 0.851 | 0.120 | 11 | 2570670 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 4 |