Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121912748 | 0.790 | 0.200 | 17 | 44253327 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 9 | |
rs121912753 | 0.827 | 0.200 | 17 | 44251583 | missense variant | A/G | snv | 5 | |||
rs114234874 | 0.882 | 0.200 | 2 | 70959974 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 | 3 | |
rs28939081 | 0.925 | 0.280 | 7 | 138709633 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 2 | |
rs121908367 | 1.000 | 0.160 | 7 | 138715764 | stop gained | G/A | snv | 2.4E-05 | 1.4E-05 | 1 | |
rs121908368 | 1.000 | 0.160 | 7 | 138739541 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 1 | |
rs1443883930 | 1.000 | 0.160 | 7 | 138745255 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 1 | |
rs267606671 | 1.000 | 0.160 | 7 | 138706689 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-05 | 1 | ||
rs587776615 | 1.000 | 0.160 | 7 | 138734135 | splice donor variant | C/T | snv | 1.2E-05 | 1 | ||
rs587776616 | 1.000 | 0.160 | 7 | 138771143 | frameshift variant | A/- | delins | 4.0E-06 | 1 | ||
rs587776617 | 1.000 | 0.160 | 7 | 138762435 | splice acceptor variant | C/T | snv | 1 | |||
rs754517968 | 1.000 | 0.160 | 7 | 138709745 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 1 | |
rs763982675 | 1.000 | 0.160 | 7 | 138747514 | missense variant | C/A;T | snv | 8.0E-05 | 1 |