Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13255292 | 0.925 | 0.120 | 8 | 128064327 | intron variant | C/T | snv | 0.24 | 2 | ||
rs4733601 | 1.000 | 0.120 | 8 | 128257220 | TF binding site variant | A/G | snv | 0.41 | 1 | ||
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs12917 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 45 | |
rs143002189 | 1.000 | 0.120 | 6 | 137881310 | missense variant | G/A | snv | 4.3E-04 | 4.4E-04 | 3 | |
rs895819 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 46 | |
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913338 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 24 | |||
rs79464052 | 1.000 | 0.120 | 5 | 141655607 | intron variant | G/C | snv | 7.1E-02 | 7.8E-02 | 1 | |
rs1178732315 | 0.882 | 0.240 | 1 | 155236381 | missense variant | A/G | snv | 1.4E-05 | 3 | ||
rs6449182 | 0.807 | 0.160 | 4 | 15778830 | intron variant | C/G | snv | 0.22 | 6 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs6773854 | 1.000 | 0.120 | 3 | 187931631 | downstream gene variant | T/C | snv | 0.23 | 2 | ||
rs1323292 | 0.882 | 0.160 | 1 | 192571891 | intron variant | G/A | snv | 0.86 | 3 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs11045879 | 1.000 | 0.120 | 12 | 21229685 | intron variant | T/C | snv | 0.18 | 4 | ||
rs1390458638 | 0.925 | 0.120 | 2 | 219216441 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs2234922 | 0.630 | 0.440 | 1 | 225838705 | missense variant | A/G;T | snv | 0.19; 2.8E-05 | 42 | ||
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs1800797 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 43 |