Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs786201675 | 0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins | 4 | |||
rs532480170 | 0.882 | 0.280 | 11 | 108316015 | stop gained | C/A;T | snv | 1.2E-05; 4.0E-06 | 5 | ||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 1 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 2 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 22 | ||
rs351855 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 1 | |
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 16 | |||
rs121913238 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 3 | |||
rs267606985 | 1.000 | 12 | 27963693 | missense variant | A/G | snv | 1 | ||||
rs1555927374 | 22 | 28725346 | stop gained | C/T | snv | 1 | |||||
rs1057519781 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 1 | |||
rs886040738 | 0.851 | 13 | 32363188 | frameshift variant | G/- | delins | 2 | ||||
rs80359030 | 0.851 | 13 | 32363189 | stop gained | G/A;T | snv | 4.0E-06 | 1 | |||
rs267607845 | 0.925 | 0.160 | 3 | 37042267 | splice acceptor variant | G/A;T | snv | 5 | |||
rs121913412 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 10 | |||
rs121913409 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 9 | |||
rs28933406 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 17 | |||
rs121913495 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 15 | |||
rs587779340 | 0.882 | 0.200 | 7 | 6003794 | splice acceptor variant | T/A;C;G | snv | 4.1E-06 | 7 | ||
rs2279744 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 1 | ||
rs11540652 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 42 | ||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 17 | |||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 13 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 1 |