Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2622849 | 1.000 | 0.120 | 1 | 102955788 | intron variant | T/A;C;G | snv | 1 | |||
rs73195662 | 1.000 | 0.120 | 7 | 106018014 | missense variant | C/A;G;T | snv | 7.2E-02; 2.0E-05 | 1 | ||
rs343604 | 1.000 | 0.120 | 1 | 110716148 | intergenic variant | T/A;C | snv | 1 | |||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 39 | |||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs149940960 | 1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 | 3 | ||
rs2089222 | 0.925 | 0.200 | 12 | 116564853 | intron variant | G/A | snv | 0.12 | 2 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs144104656 | 1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 | 3 | ||
rs637868 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 3 | ||
rs4617118 | 1.000 | 0.120 | 8 | 129143897 | intron variant | A/C;G | snv | 0.20 | 1 | ||
rs199695765 | 0.925 | 0.160 | 7 | 130269008 | stop gained | C/T | snv | 8.8E-05 | 1.3E-04 | 2 | |
rs387906517 | 0.827 | 0.120 | 9 | 130862919 | missense variant | G/A | snv | 6 | |||
rs121913448 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 5 | |||
rs121913459 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 25 | |||
rs1057519773 | 0.851 | 0.160 | 9 | 130872901 | missense variant | T/A;C;G | snv | 4 | |||
rs121913451 | 0.851 | 0.160 | 9 | 130872903 | missense variant | C/A;G | snv | 4 | |||
rs4896310 | 1.000 | 0.120 | 6 | 138018697 | intergenic variant | A/G;T | snv | 3 | |||
rs11155133 | 0.925 | 0.200 | 6 | 140848688 | intron variant | A/G | snv | 8.5E-02 | 2 | ||
rs17007695 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 4 | ||
rs56149945 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 49 |