Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs254942 | 0.882 | 0.080 | 16 | 13932150 | splice region variant | G/A;C;T | snv | 0.97; 4.0E-06; 4.0E-06 | 3 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 60 | ||
rs1679709 | 0.925 | 0.080 | 6 | 28260564 | missense variant | A/G | snv | 0.87 | 0.83 | 2 | |
rs11084490 | 0.925 | 0.080 | 19 | 57231104 | 5 prime UTR variant | G/A;C;T | snv | 0.87; 3.8E-05 | 2 | ||
rs1047972 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 19 | |
rs2447867 | 0.925 | 0.080 | 5 | 52861540 | missense variant | T/C;G | snv | 0.79; 4.0E-06 | 2 | ||
rs4245739 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 19 | ||
rs2076167 | 0.925 | 0.080 | 6 | 35424010 | missense variant | C/G;T | snv | 0.75 | 2 | ||
rs1064261 | 0.925 | 0.080 | 1 | 11228701 | missense variant | G/A;T | snv | 0.75; 4.0E-06 | 3 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs2231231 | 0.851 | 0.240 | 9 | 33442988 | non coding transcript exon variant | A/C | snv | 0.67 | 0.69 | 5 | |
rs4626 | 0.925 | 0.080 | 17 | 50863061 | synonymous variant | T/C | snv | 0.66 | 0.69 | 2 | |
rs2241909 | 0.925 | 0.080 | 17 | 8205021 | synonymous variant | G/A | snv | 0.66 | 0.64 | 2 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 98 | ||
rs7813 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 22 | ||
rs1877031 | 0.827 | 0.280 | 17 | 39657827 | missense variant | G/A | snv | 0.62 | 0.52 | 4 | |
rs1058808 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 27 | |
rs326222 | 0.882 | 0.080 | 11 | 47238117 | intron variant | T/C | snv | 0.60 | 0.58 | 3 | |
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs4072037 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 16 | ||
rs238406 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 23 |