Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs34767364 | 0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 | 20 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1057520007 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 21 | |||
rs886039484 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 32 | |||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs1057520002 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 20 | |||
rs28934573 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 28 | ||
rs28934574 | 0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 | 31 | ||
rs730882008 | 0.683 | 0.440 | 17 | 7673775 | missense variant | C/A;G;T | snv | 4.0E-06 | 23 | ||
rs869025608 | 0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv | 9 | |||
rs1057519909 | 0.790 | 0.240 | 15 | 66435116 | missense variant | A/C | snv | 7 | |||
rs10519097 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 18 | ||
rs760228510 | 0.925 | 0.240 | 7 | 5999182 | stop gained | G/A;C | snv | 6 | |||
rs3749474 | 0.724 | 0.320 | 4 | 55434518 | 3 prime UTR variant | C/T | snv | 0.33 | 17 | ||
rs11943456 | 0.708 | 0.320 | 4 | 55410167 | intron variant | T/C | snv | 0.42 | 18 | ||
rs5743836 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 31 | ||
rs1057519952 | 0.882 | 0.160 | 3 | 49375577 | missense variant | G/A | snv | 5 | |||
rs1057519953 | 0.807 | 0.200 | 3 | 49375576 | missense variant | C/A;T | snv | 8 | |||
rs1057519954 | 0.882 | 0.160 | 3 | 49375465 | missense variant | T/A;C;G | snv | 4 | |||
rs63750042 | 0.925 | 0.240 | 2 | 47408415 | stop gained | C/G;T | snv | 4.0E-06 | 6 | ||
rs121908689 | 0.925 | 0.120 | 1 | 46272758 | missense variant | T/A | snv | 2 | |||
rs1799793 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 72 |