Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1002765 | 0.851 | 0.080 | 3 | 87227912 | intron variant | G/A;C | snv | 4 | |||
rs1011445550 | 0.925 | 0.080 | 17 | 7676391 | missense variant | G/C | snv | 2 | |||
rs1042229 | 0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 | 7 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1053023 | 0.882 | 0.120 | 17 | 42313598 | 3 prime UTR variant | T/A;C | snv | 4 | |||
rs1057317 | 0.827 | 0.160 | 9 | 117715764 | 3 prime UTR variant | C/A | snv | 5 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs1064261 | 0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 | 3 | ||
rs10680577 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 10 | |||
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
rs10739971 | 0.882 | 0.080 | 9 | 94175398 | intron variant | G/A;C | snv | 5 | |||
rs10746463 | 0.851 | 0.200 | 1 | 207337251 | missense variant | G/A;T | snv | 4 | |||
rs11084490 | 0.925 | 0.080 | 19 | 57231104 | 5 prime UTR variant | G/A;C;T | snv | 0.87; 3.8E-05 | 2 | ||
rs111238176 | 0.851 | 0.160 | 1 | 172665840 | missense variant | A/G | snv | 4 | |||
rs111638916 | 0.925 | 0.080 | X | 108084839 | 3 prime UTR variant | G/A | snv | 3 | |||
rs1126757 | 0.882 | 0.120 | 19 | 55368504 | synonymous variant | C/G;T | snv | 4.1E-06; 0.48 | 3 | ||
rs1126760 | 0.925 | 0.080 | 19 | 55364706 | 3 prime UTR variant | G/A;C | snv | 2 | |||
rs112754928 | 0.925 | 0.080 | 1 | 31815123 | missense variant | G/A;T | snv | 4.5E-03; 1.2E-05 | 2 | ||
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs1131445 | 0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv | 16 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs113593938 | 0.790 | 0.200 | 21 | 44250907 | missense variant | C/T | snv | 3.5E-03 | 7 | ||
rs1143633 | 0.752 | 0.280 | 2 | 112832890 | intron variant | C/G;T | snv | 11 |