Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17655 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 52 | |
rs751837 | 0.882 | 0.120 | 14 | 103018488 | intron variant | T/C | snv | 0.23 | 4 | ||
rs1312391542 | 0.925 | 0.120 | 6 | 106104897 | missense variant | G/A;T | snv | 2 | |||
rs3218674 | 1.000 | 0.120 | 11 | 108244860 | synonymous variant | C/G;T | snv | 1.1E-02 | 1.1E-02 | 2 | |
rs12711521 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 7 | |
rs7765004 | 0.925 | 0.120 | 6 | 113750518 | regulatory region variant | A/C | snv | 0.32 | 2 | ||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 26 | |||
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 | |||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 31 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1880030 | 0.925 | 0.120 | 12 | 122046634 | intron variant | G/A | snv | 0.39 | 2 | ||
rs9831894 | 0.882 | 0.120 | 3 | 122081640 | intron variant | A/C | snv | 0.31 | 3 | ||
rs2681416 | 0.925 | 0.120 | 3 | 122098766 | intron variant | G/A | snv | 0.26 | 2 | ||
rs7712513 | 0.925 | 0.120 | 5 | 122582513 | intergenic variant | G/T | snv | 0.71 | 2 | ||
rs907715 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 11 | ||
rs1239470707 | 0.925 | 0.120 | 3 | 12416785 | missense variant | C/A | snv | 2 | |||
rs1444766 | 0.882 | 0.160 | 3 | 124206424 | intron variant | A/G;T | snv | 3 | |||
rs16978630 | 0.925 | 0.160 | 19 | 12702869 | missense variant | T/C;G | snv | 4.1E-02 | 2 |