Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs886041345 | 1.000 | 0.120 | 3 | 10142008 | frameshift variant | -/AGGCCGGG | delins | 1 | |||
rs869025668 | 0.882 | 0.240 | 3 | 10149964 | stop lost | G/T | snv | 3 | |||
rs869025667 | 0.827 | 0.200 | 3 | 10149916 | missense variant | T/C | snv | 6 | |||
rs869025666 | 1.000 | 0.120 | 3 | 10149906 | frameshift variant | -/AAGA | delins | 1 | |||
rs869025664 | 0.925 | 0.160 | 3 | 10149863 | frameshift variant | CGTC/- | del | 2 | |||
rs869025663 | 1.000 | 0.120 | 3 | 10149818 | frameshift variant | GTCCGGAGCCT/- | delins | 1 | |||
rs869025662 | 1.000 | 0.120 | 3 | 10149809 | stop gained | C/A;G | snv | 1 | |||
rs869025661 | 1.000 | 0.120 | 3 | 10149793 | frameshift variant | -/T | delins | 1 | |||
rs869025660 | 1.000 | 0.120 | 3 | 10149793 | missense variant | C/T | snv | 1 | |||
rs869025659 | 1.000 | 0.120 | 3 | 10146636 | missense variant | G/A | snv | 1 | |||
rs869025657 | 0.925 | 0.160 | 3 | 10146637 | splice donor variant | G/A;C | snv | 2 | |||
rs869025656 | 1.000 | 0.120 | 3 | 10146627 | splice donor variant | ACACTGCCAGGTACTGACGTTTTACTT/- | del | 1 | |||
rs869025655 | 0.925 | 0.160 | 3 | 10146625 | missense variant | T/C;G | snv | 3 | |||
rs869025653 | 1.000 | 0.120 | 3 | 10146613 | frameshift variant | T/-;TT | delins | 1 | |||
rs869025652 | 0.925 | 0.160 | 3 | 10146608 | frameshift variant | GC/- | del | 2 | |||
rs869025651 | 1.000 | 0.120 | 3 | 10146603 | frameshift variant | G/- | delins | 1 | |||
rs869025650 | 0.882 | 0.160 | 3 | 10146603 | stop gained | G/A;C;T | snv | 4.0E-06 | 3 | ||
rs869025649 | 0.925 | 0.160 | 3 | 10146588 | frameshift variant | TC/- | delins | 2 | |||
rs869025648 | 0.851 | 0.240 | 3 | 10146587 | synonymous variant | A/G | snv | 4 | |||
rs869025647 | 1.000 | 0.120 | 3 | 10142036 | frameshift variant | GCGC/- | del | 1 | |||
rs869025646 | 1.000 | 0.120 | 3 | 10146574 | frameshift variant | A/- | delins | 1 | |||
rs869025645 | 1.000 | 0.120 | 3 | 10146554 | missense variant | GC/TT | mnv | 1 | |||
rs869025644 | 0.925 | 0.160 | 3 | 10146543 | frameshift variant | AC/- | delins | 2 | |||
rs869025643 | 1.000 | 0.120 | 3 | 10146547 | missense variant | A/C | snv | 1 | |||
rs869025642 | 1.000 | 0.120 | 3 | 10146531 | missense variant | A/G | snv | 1 |