Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1801275 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 58 | |
rs2569190 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 39 | ||
rs3135932 | 0.677 | 0.480 | 11 | 117993348 | missense variant | A/G | snv | 0.13 | 0.11 | 23 | |
rs9808753 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 17 | |
rs4523 | 0.776 | 0.280 | 19 | 3595796 | missense variant | A/G | snv | 0.56 | 0.66 | 8 | |
rs569108 | 0.790 | 0.200 | 11 | 60095631 | missense variant | A/G | snv | 4.7E-02 | 7.3E-02 | 8 | |
rs2664538 | 0.827 | 0.200 | 20 | 46011586 | missense variant | A/G | snv | 6 | |||
rs41347648 | 0.882 | 0.080 | 13 | 48707418 | missense variant | A/G | snv | 1.7E-02 | 1.7E-02 | 3 | |
rs2282290 | 0.925 | 0.080 | 1 | 111320829 | intron variant | A/G | snv | 0.38 | 2 | ||
rs900333744 | 0.925 | 0.080 | 9 | 21440695 | missense variant | A/G | snv | 2 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4794820 | 0.790 | 0.160 | 17 | 39933091 | intron variant | A/G;T | snv | 9 | |||
rs4065275 | 0.807 | 0.160 | 17 | 39924612 | intron variant | A/G;T | snv | 0.56 | 6 | ||
rs16947078 | 0.925 | 0.080 | 17 | 47748134 | downstream gene variant | A/G;T | snv | 2 | |||
rs3217304 | 0.925 | 0.080 | 2 | 98544046 | intron variant | ACACAC/-;AC;ACAC;ACACACAC;ACACACACAC;ACACACACACAC | delins | 0.25 | 2 | ||
rs71802646 | 0.882 | 0.080 | 12 | 57111290 | 5 prime UTR variant | ACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACAC;ACACACACACACACACACACACACAC | delins | 0.32 | 3 | ||
rs1425851607 | 0.925 | 0.080 | 9 | 21440691 | frameshift variant | C/- | delins | 4.2E-06 | 2 | ||
rs11650354 | 1.000 | 0.080 | 17 | 47744726 | intron variant | C/A;T | snv | 0.16 | 0.15 | 1 | |
rs1861494 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 15 | ||
rs1207011218 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 12 | |||
rs324011 | 0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 | 12 | ||
rs7927894 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 12 | ||
rs11575936 | 0.851 | 0.200 | 6 | 137219288 | missense variant | C/T | snv | 1.3E-03 | 4.1E-04 | 4 |