Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121909641 | 0.763 | 0.520 | 8 | 38419720 | missense variant | G/A | snv | 9 | |||
rs606231409 | 0.925 | 0.160 | X | 8732036 | start lost | T/A;C | snv | 3 | |||
rs121909627 | 0.776 | 0.200 | 8 | 38424690 | missense variant | G/C | snv | 4.0E-06 | 3 | ||
rs121909628 | 0.925 | 0.160 | 8 | 38414892 | stop gained | G/A;C | snv | 3 | |||
rs121909636 | 0.827 | 0.240 | 8 | 38414569 | stop gained | G/A | snv | 2 | |||
rs121909639 | 0.925 | 0.160 | 8 | 38415899 | stop gained | G/A | snv | 2 | |||
rs121909645 | 0.925 | 0.240 | 8 | 38424696 | missense variant | C/G;T | snv | 2 | |||
rs1554552774 | 0.925 | 0.200 | 8 | 38418227 | splice donor variant | C/T | snv | 2 | |||
rs1554570706 | 0.925 | 0.200 | 8 | 38429808 | missense variant | G/A | snv | 2 | |||
rs1554570813 | 0.925 | 0.200 | 8 | 38429826 | stop gained | G/A | snv | 2 | |||
rs515726225 | 1.000 | 0.160 | 8 | 38414254 | missense variant | G/A | snv | 2 | |||
rs727505369 | 0.925 | 0.160 | 8 | 38424624 | missense variant | T/C | snv | 2 | |||
rs727505373 | 0.925 | 0.160 | 8 | 38429744 | missense variant | T/C | snv | 2 | |||
rs727505376 | 0.925 | 0.160 | 8 | 38414279 | missense variant | C/G;T | snv | 2 | |||
rs876661334 | 0.925 | 0.240 | 8 | 38414778 | splice donor variant | C/T | snv | 2 | |||
rs1060499663 | 1.000 | 0.160 | 8 | 38416013 | frameshift variant | C/- | delins | 1 | |||
rs121909629 | 0.882 | 0.200 | 8 | 38415905 | missense variant | C/T | snv | 1 | |||
rs121909630 | 0.925 | 0.160 | 8 | 38428043 | missense variant | C/A | snv | 1 | |||
rs121909635 | 0.827 | 0.240 | 8 | 38426158 | missense variant | C/T | snv | 1 | |||
rs121909637 | 0.882 | 0.240 | 8 | 38418249 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 | 1 | ||
rs121909638 | 0.882 | 0.280 | 8 | 38421853 | missense variant | A/G | snv | 1 | |||
rs121909640 | 0.925 | 0.160 | 8 | 38429898 | missense variant | C/T | snv | 1 | |||
rs121909642 | 0.925 | 0.160 | 8 | 38414174 | missense variant | G/A | snv | 1 | |||
rs121909643 | 1.000 | 0.160 | 8 | 38413918 | missense variant | C/A;G | snv | 1 | |||
rs121909644 | 0.925 | 0.160 | 8 | 38413795 | missense variant | C/A;T | snv | 1 |