Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1267969615 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 100 | ||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs2230806 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 24 | |
rs505151 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 18 | |
rs688 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 16 | |
rs104894833 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 11 | |
rs2281939 | 0.790 | 0.320 | 10 | 95414595 | missense variant | T/C | snv | 8.2E-02 | 0.13 | 9 | |
rs5925 | 0.851 | 0.200 | 19 | 11120205 | synonymous variant | T/C | snv | 0.42 | 0.37 | 7 | |
rs17111503 | 0.925 | 0.160 | 1 | 55037775 | upstream gene variant | A/G | snv | 0.22 | 7 | ||
rs1800255 | 0.851 | 0.160 | 2 | 188999354 | missense variant | G/A | snv | 0.25 | 0.21 | 5 | |
rs2138533 | 1.000 | 0.120 | 2 | 188972486 | upstream gene variant | T/A;C | snv | 3 | |||
rs11583680 | 0.882 | 0.200 | 1 | 55039995 | missense variant | C/G;T | snv | 1.6E-05; 0.11 | 3 | ||
rs11887092 | 1.000 | 0.120 | 2 | 188972572 | upstream gene variant | A/G | snv | 7.8E-02 | 2 | ||
rs3739391 | 1.000 | 0.120 | 8 | 6563013 | 5 prime UTR variant | A/G | snv | 0.69 | 2 | ||
rs483462 | 1.000 | 0.120 | 1 | 55059727 | intron variant | G/A | snv | 0.63 | 1 | ||
rs3744028 | 1.000 | 0.120 | 17 | 75892591 | non coding transcript exon variant | T/C;G | snv | 1 |