Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs9841504 | 0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv | 6 | |||
rs3747093 | 0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 | 14 | ||
rs828907 | 0.827 | 0.160 | 2 | 216108009 | intron variant | G/T | snv | 0.37 | 6 | ||
rs28360071 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 18 | ||
rs861528 | 0.925 | 0.080 | 14 | 103716661 | intron variant | C/T | snv | 0.17 | 2 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs25489 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 78 | ||
rs148611340 | 0.790 | 0.120 | 19 | 43543621 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 | 7 | ||
rs2293035 | 0.882 | 0.080 | 19 | 43546923 | synonymous variant | G/A | snv | 1.6E-04 | 1.5E-04 | 3 | |
rs377566281 | 0.925 | 0.080 | 19 | 43552083 | missense variant | C/T | snv | 5.6E-05 | 2.1E-05 | 3 | |
rs2607775 | 0.807 | 0.160 | 3 | 14178595 | 5 prime UTR variant | C/G | snv | 0.42 | 0.43 | 8 | |
rs1870134 | 0.827 | 0.120 | 3 | 14178523 | missense variant | G/C;T | snv | 4.2E-02; 8.1E-06 | 5 | ||
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs2470352 | 0.925 | 0.080 | 3 | 14145330 | missense variant | A/G;T | snv | 1.7E-03; 0.15 | 2 | ||
rs535242729 | 0.925 | 0.080 | 3 | 14172913 | missense variant | G/A | snv | 2 | |||
rs2808668 | 0.851 | 0.120 | 9 | 97690153 | intron variant | C/G;T | snv | 7 | |||
rs376040996 | 0.790 | 0.120 | 9 | 97687210 | missense variant | T/C;G | snv | 1.2E-05; 2.0E-05 | 7 | ||
rs1408543226 | 0.807 | 0.240 | 9 | 97675558 | missense variant | A/G | snv | 7.0E-06 | 6 | ||
rs207454 | 0.851 | 0.120 | 2 | 31344766 | intron variant | T/G | snv | 0.11 | 0.16 | 4 | |
rs494852 | 0.925 | 0.080 | 2 | 31401970 | intron variant | C/T | snv | 0.21 | 2 | ||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs6976500 | 0.925 | 0.080 | 7 | 141737464 | non coding transcript exon variant | G/C | snv | 0.44 | 2 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 |