Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs63750610 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 6 | |||
rs63750875 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 6 | ||
rs63751275 | 0.851 | 0.240 | 3 | 37048973 | missense variant | C/A;G;T | snv | 1.2E-05; 2.0E-05 | 6 | ||
rs267608161 | 0.851 | 0.200 | 7 | 5982885 | missense variant | C/T | snv | 4.0E-05 | 2.8E-05 | 4 | |
rs63750899 | 0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv | 4 | |||
rs876659736 | 0.925 | 0.200 | 7 | 5995612 | missense variant | T/A;C | snv | 8.0E-06 | 4 | ||
rs121912965 | 0.882 | 0.200 | 3 | 36993651 | missense variant | TG/AC | mnv | 3 | |||
rs587779338 | 0.851 | 0.200 | 7 | 5977589 | missense variant | G/A | snv | 1.0E-05 | 2.1E-05 | 3 | |
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs397514684 | 1.000 | 0.160 | 3 | 37000965 | missense variant | T/C;G | snv | 2 | |||
rs587779342 | 0.925 | 0.200 | 7 | 5999199 | missense variant | T/G | snv | 8.0E-06 | 2 | ||
rs869320619 | 1.000 | 0.160 | 7 | 5986763 | missense variant | T/C | snv | 2 | |||
rs188006077 | 1.000 | 0.160 | 7 | 6003724 | missense variant | G/A | snv | 1.3E-05 | 1 | ||
rs267607940 | 0.851 | 0.240 | 2 | 47416430 | splice donor variant | G/A;T | snv | 6 | |||
rs876660943 | 0.882 | 0.240 | 2 | 47806359 | splice donor variant | G/T | snv | 7.0E-06 | 5 | ||
rs1057515572 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 8 | |||
rs267608160 | 0.925 | 0.200 | 7 | 5977669 | frameshift variant | GAAG/- | del | 4 | |||
rs587776715 | 0.925 | 0.200 | 7 | 5987544 | frameshift variant | C/- | delins | 3 | |||
rs63751449 | 0.925 | 0.200 | 2 | 47410178 | frameshift variant | A/-;AA | delins | 3 | |||
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 | |||
rs587776706 | 1.000 | 0.160 | 2 | 47805692 | frameshift variant | -/T | delins | 2 | |||
rs63750106 | 0.925 | 0.200 | 7 | 5987458 | frameshift variant | -/T | delins | 2 | |||
rs63750793 | 0.925 | 0.200 | 7 | 6004040 | frameshift variant | T/- | del | 2 | |||
rs587779340 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 7 |