Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121917834 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 10 | ||
rs3737240 | 0.882 | 0.200 | 1 | 150510879 | missense variant | C/T | snv | 0.34 | 0.29 | 3 | |
rs121909114 | 1.000 | 0.080 | 1 | 150511784 | stop gained | C/T | snv | 8.0E-06 | 1 | ||
rs121909115 | 1.000 | 0.080 | 1 | 150509696 | stop gained | C/T | snv | 4.4E-05 | 2.1E-05 | 1 | |
rs121909116 | 1.000 | 0.080 | 1 | 150510989 | missense variant | T/A | snv | 1.2E-05 | 3.5E-05 | 1 | |
rs1560265435 | 1.000 | 0.080 | 1 | 150510970 | stop gained | G/A | snv | 1 | |||
rs1560267428 | 1.000 | 0.080 | 1 | 150513236 | splice acceptor variant | G/T | snv | 1 | |||
rs369508778 | 1.000 | 0.080 | 1 | 150511490 | stop gained | G/A;T | snv | 8.0E-06; 8.0E-06 | 1 | ||
rs370285146 | 1.000 | 0.080 | 1 | 150513285 | stop gained | C/T | snv | 2.0E-05 | 1 | ||
rs746217361 | 1.000 | 0.080 | 1 | 150511475 | stop gained | C/A;T | snv | 4.0E-05; 4.0E-06 | 1 | ||
rs869025563 | 1.000 | 0.080 | 1 | 150511574 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs869025566 | 1.000 | 0.080 | 1 | 150511148 | missense variant | T/G | snv | 1 | |||
rs869025564 | 1.000 | 0.080 | 1 | 150510990 | frameshift variant | -/C | delins | 1 | |||
rs778473713 | 1.000 | 0.080 | 1 | 150511767 | frameshift variant | A/- | del | 5.6E-05 | 4.2E-05 | 1 | |
rs869025565 | 1.000 | 0.080 | 1 | 150510997 | frameshift variant | T/- | del | 4.0E-06 | 1.4E-05 | 1 | |
rs869025567 | 1.000 | 0.080 | 1 | 150509553 | stop gained | GC/TT | mnv | 1 |