Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11554290 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 25 | |||
rs121913255 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 19 | |||
rs121434596 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 14 | ||
rs121434595 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 13 | |||
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 13 | |||
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 12 | ||
rs36053993 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 9 | |
rs3024493 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 8 | ||
rs7538876 | 0.807 | 0.120 | 1 | 17395867 | intron variant | G/A | snv | 0.37 | 5 | ||
rs121913254 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 3 | |||
rs587782228 | 0.882 | 0.120 | 1 | 45330557 | missense variant | C/A;T | snv | 4.2E-06; 4.2E-06 | 3 | ||
rs8192284 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 3 | |||
rs397514606 | 0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv | 2 | |||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 1 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 1 | |||
rs121913248 | 1.000 | 0.040 | 1 | 114716109 | missense variant | C/G;T | snv | 4.0E-06 | 1 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 1 | ||
rs3219090 | 1.000 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 | 1 | ||
rs4845618 | 0.851 | 0.160 | 1 | 154427539 | intron variant | G/T | snv | 0.53 | 1 | ||
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 1 | |||
rs7412746 | 1.000 | 0.040 | 1 | 150887995 | intron variant | C/T | snv | 0.41 | 1 | ||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 18 | |||
rs6750047 | 0.851 | 0.080 | 2 | 38049406 | intron variant | A/G | snv | 0.61 | 4 | ||
rs12621278 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 3 | ||
rs13016963 | 0.851 | 0.080 | 2 | 201298088 | intron variant | A/G | snv | 0.59 | 3 |