Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs869320619 | 1.000 | 0.160 | 7 | 5986763 | missense variant | T/C | snv | 4 | |||
rs886039646 | 1.000 | 0.160 | 7 | 5973467 | frameshift variant | A/- | del | 2.8E-05 | 3 | ||
rs1554298082 | 1.000 | 0.160 | 7 | 5987601 | frameshift variant | A/- | del | 2 | |||
rs188006077 | 1.000 | 0.160 | 7 | 6003724 | missense variant | G/A | snv | 1.3E-05 | 2 | ||
rs397514684 | 1.000 | 0.160 | 3 | 37000965 | missense variant | T/C;G | snv | 2 | |||
rs587776706 | 1.000 | 0.160 | 2 | 47805692 | frameshift variant | -/T | delins | 2 | |||
rs587780724 | 1.000 | 0.160 | 7 | 5987389 | stop gained | G/C;T | snv | 2 | |||
rs121434630 | 1.000 | 0.160 | 7 | 6004003 | stop gained | A/T | snv | 1 | |||
rs146848345 | 1.000 | 0.160 | 7 | 5987327 | missense variant | C/G;T | snv | 8.0E-06; 2.8E-05 | 1 | ||
rs200726484 | 1.000 | 0.160 | 7 | 5987456 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 1 | |
rs267607990 | 1.000 | 0.160 | 2 | 47476362 | splice region variant | T/A;C | snv | 1 | |||
rs368516768 | 1.000 | 0.160 | 7 | 5987255 | missense variant | C/G | snv | 2.8E-05 | 6.3E-05 | 1 | |
rs587776705 | 1.000 | 0.160 | 2 | 47803633 | inframe deletion | GTG/- | del | 1 | |||
rs587779328 | 1.000 | 0.160 | 7 | 5987302 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 1 | ||
rs587779346 | 1.000 | 0.160 | 7 | 5992040 | missense variant | A/C | snv | 1 | |||
rs756580931 | 1.000 | 0.160 | 2 | 189863996 | missense variant | A/G | snv | 1 | |||
rs769554577 | 1.000 | 0.160 | 7 | 6004025 | missense variant | A/G | snv | 1.6E-05 | 4.2E-05 | 1 | |
rs4987188 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 11 | ||
rs63750206 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 9 | |||
rs1057515572 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 8 | |||
rs587779338 | 0.851 | 0.200 | 7 | 5977589 | missense variant | G/A | snv | 1.0E-05 | 2.1E-05 | 7 | |
rs587779340 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 7 | ||
rs63750899 | 0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv | 7 | |||
rs267608161 | 0.851 | 0.200 | 7 | 5982885 | missense variant | C/T | snv | 4.0E-05 | 2.8E-05 | 6 | |
rs63751615 | 0.851 | 0.200 | 3 | 37012098 | stop gained | C/A;T | snv | 4.0E-06 | 6 |