Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554927408 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 12 | |||
rs1057519044 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 11 | |||
rs1434545235 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 11 | ||
rs121918505 | 0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv | 5 | |||
rs121912469 | 1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv | 2 | |||
rs121909144 | 10 | 3781852 | missense variant | G/A;T | snv | 1 | |||||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs121913530 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 63 | |||
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs28933369 | 0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv | 5 | |||
rs34612342 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 32 | |
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 31 | |
rs140342925 | 0.882 | 0.120 | 1 | 45332445 | missense variant | C/T | snv | 8.4E-05 | 8.4E-05 | 5 | |
rs372267274 | 0.882 | 0.120 | 1 | 45333171 | splice acceptor variant | C/G;T | snv | 5 | |||
rs587780088 | 0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 5 | ||
rs587781628 | 0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 | 5 | |
rs121908382 | 1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv | 2 | |||
rs121908383 | 1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv | 2 | |||
rs1553125914 | 1.000 | 0.120 | 1 | 45331512 | frameshift variant | -/TC | delins | 2 | |||
rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 19 | |||
rs1440200916 | 4 | 54258803 | missense variant | G/C;T | snv | 2 | |||||
rs121913279 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 101 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs121913281 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 37 | |||
rs587776802 | 1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins | 2 |