Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10053538 | 0.807 | 0.160 | 5 | 157110499 | intron variant | C/A;T | snv | 7 | |||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
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 | |||
rs11225395 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 11 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 213 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 484 | ||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 135 | ||
rs1219648 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 16 | |||
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs1455751791 | 0.882 | 0.120 | 6 | 152011735 | synonymous variant | C/G | snv | 4.0E-06 | 3 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 106 | ||
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs2228468 | 0.882 | 0.120 | 3 | 42865620 | missense variant | A/C;T | snv | 0.43; 8.3E-03 | 3 | ||
rs2231142 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 54 | ||
rs2249825 | 0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv | 22 | |||
rs2839698 | 0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 | 25 | ||
rs3020449 | 0.807 | 0.200 | 14 | 64306674 | intron variant | A/G;T | snv | 10 | |||
rs372043866 | 0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 | 18 | ||
rs3741219 | 0.776 | 0.280 | 11 | 1995389 | non coding transcript exon variant | A/G | snv | 0.42 | 10 | ||
rs3801004 | 0.882 | 0.120 | 7 | 5598591 | intron variant | C/A;G;T | snv | 3 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 |