Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1060503751 | 0.882 | 0.080 | 1 | 17028691 | frameshift variant | AG/- | delins | 4 | |||
rs1060503752 | 0.925 | 0.080 | 1 | 17023994 | frameshift variant | CA/- | del | 3 | |||
rs1060503753 | 0.925 | 0.080 | 1 | 17027790 | stop gained | T/A | snv | 3 | |||
rs1060503757 | 0.882 | 0.080 | 1 | 17024024 | frameshift variant | G/- | delins | 5 | |||
rs1060503759 | 0.925 | 0.080 | 1 | 17024013 | stop gained | C/T | snv | 3 | |||
rs1060503762 | 0.925 | 0.080 | 1 | 17044820 | stop gained | C/T | snv | 3 | |||
rs1060503763 | 0.925 | 0.080 | 1 | 17027848 | stop gained | A/C | snv | 3 | |||
rs1060503764 | 0.925 | 0.080 | 1 | 17022655 | frameshift variant | -/A | delins | 4 | |||
rs1131691049 | 0.882 | 0.080 | 1 | 17054019 | start lost | T/A | snv | 5 | |||
rs1131691055 | 0.925 | 0.080 | 1 | 17044889 | splice acceptor variant | C/A;T | snv | 4 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1209914140 | 0.925 | 0.080 | 1 | 17022687 | frameshift variant | -/CGCCTCTGTGAAG | delins | 4.0E-06 | 3 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs138996609 | 0.882 | 0.080 | 1 | 17022685 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs1553176976 | 0.925 | 0.080 | 1 | 17018936 | frameshift variant | -/AGCT | delins | 3 | |||
rs1553176979 | 0.925 | 0.080 | 1 | 17018938 | frameshift variant | -/C | ins | 3 | |||
rs1553177436 | 0.925 | 0.080 | 1 | 17024007 | frameshift variant | C/- | delins | 3 | |||
rs1553177676 | 0.925 | 0.080 | 1 | 17027784 | stop gained | G/A | snv | 3 | |||
rs1553177678 | 0.925 | 0.080 | 1 | 17027798 | frameshift variant | T/- | del | 3 | |||
rs1553178726 | 0.925 | 0.080 | 1 | 17044756 | splice region variant | C/G | snv | 3 | |||
rs1557738304 | 0.925 | 0.080 | 1 | 17018943 | frameshift variant | -/C | delins | 3 | |||
rs1557739966 | 0.925 | 0.080 | 1 | 17024017 | missense variant | A/G | snv | 3 | |||
rs1557741425 | 0.925 | 0.080 | 1 | 17028623 | frameshift variant | -/C | delins | 3 | |||
rs200245469 | 0.925 | 0.080 | 1 | 17022724 | missense variant | G/A;C | snv | 4.0E-06 | 4 | ||
rs202101384 | 0.851 | 0.160 | 1 | 17044818 | missense variant | T/A | snv | 4.4E-05 | 1.4E-05 | 6 |