Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 59 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 26 | |||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs34676223 | 0.925 | 0.120 | 1 | 23617245 | intron variant | C/A;T | snv | 2 | |||
rs41271473 | 0.925 | 0.120 | 1 | 228744549 | 3 prime UTR variant | G/A | snv | 0.18 | 2 | ||
rs228014 | 1.000 | 0.120 | 1 | 177002472 | intron variant | T/C | snv | 0.58 | 1 | ||
rs895520 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 23 | ||
rs10165970 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 18 | ||
rs17024869 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 18 | ||
rs7581886 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 18 | ||
rs1057520009 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 14 | ||
rs2228014 | 0.752 | 0.240 | 2 | 136115514 | synonymous variant | G/A | snv | 4.6E-02 | 3.5E-02 | 14 | |
rs559063155 | 0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 | 14 | ||
rs2305160 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 9 | |
rs1057520010 | 0.882 | 0.200 | 2 | 61492336 | missense variant | T/A;G | snv | 5 | |||
rs13397985 | 0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv | 5 | |||
rs17483466 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 5 | ||
rs754688962 | 0.851 | 0.200 | 2 | 197402637 | missense variant | T/C;G | snv | 5 | |||
rs1057519961 | 0.851 | 0.240 | 2 | 197402759 | missense variant | C/T | snv | 4 | |||
rs12711846 | 0.851 | 0.160 | 2 | 111098716 | non coding transcript exon variant | A/G | snv | 0.26 | 4 |