Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104893887 | 0.925 | 0.280 | 5 | 44310447 | stop gained | T/A | snv | 2 | |||
rs104893888 | 0.925 | 0.280 | 5 | 44388443 | missense variant | T/G | snv | 2 | |||
rs104893885 | 1.000 | 0.280 | 5 | 44388366 | missense variant | C/A | snv | 1 | |||
rs104893886 | 1.000 | 0.280 | 5 | 44305155 | missense variant | A/C | snv | 1 | |||
rs121913112 | 1.000 | 0.280 | 4 | 1805561 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 1 | ||
rs121918509 | 1.000 | 0.280 | 10 | 121488095 | missense variant | C/T | snv | 1 | |||
rs1453271838 | 1.000 | 0.280 | 4 | 1806096 | missense variant | G/A | snv | 1.4E-05 | 1 | ||
rs1554035469 | 1.000 | 0.280 | 5 | 44305072 | missense variant | C/T | snv | 1 | |||
rs1554035757 | 1.000 | 0.280 | 5 | 44310455 | missense variant | A/T | snv | 1 | |||
rs1554035763 | 1.000 | 0.280 | 5 | 44310500 | frameshift variant | C/- | delins | 1 | |||
rs1554040361 | 1.000 | 0.280 | 5 | 44388427 | frameshift variant | T/- | del | 1 | |||
rs1554040364 | 1.000 | 0.280 | 5 | 44388451 | frameshift variant | G/- | delins | 1 | |||
rs1554040396 | 1.000 | 0.280 | 5 | 44388682 | start lost | T/C | snv | 1 | |||
rs1554907337 | 1.000 | 0.280 | 10 | 121487390 | missense variant | G/A | snv | 1 | |||
rs1554917471 | 1.000 | 0.280 | 10 | 121500910 | missense variant | C/A | snv | 1 | |||
rs879253720 | 1.000 | 0.280 | 10 | 121488028 | inframe deletion | TCT/- | del | 1 | |||
rs121913116 | 0.763 | 0.360 | 4 | 1799395 | missense variant | C/T | snv | 9 | |||
rs121918508 | 0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv | 4 | |||
rs886041251 | 0.882 | 0.360 | 3 | 189868614 | missense variant | C/T | snv | 3 | |||
rs121918487 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 25 | |||
rs121918491 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 15 | ||
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 | ||
rs1554927408 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 12 | |||
rs4647924 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 49 |