Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs1188975135 | 0.882 | 0.040 | 22 | 39017772 | missense variant | T/C | snv | 4.0E-06 | 4 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1433591886 | 1.000 | 2 | 169633213 | missense variant | G/A | snv | 4.0E-06 | 1 | |||
rs11045819 | 0.851 | 0.120 | 12 | 21176879 | missense variant | C/A;T | snv | 0.11; 4.0E-06 | 4 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1799972 | 0.827 | 0.080 | 6 | 154039561 | missense variant | C/A;G;T | snv | 4.1E-06; 1.7E-02 | 6 | ||
rs17235409 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 31 | ||
rs762513613 | 0.752 | 0.280 | 1 | 161591315 | missense variant | A/G | snv | 4.2E-06 | 7.4E-06 | 11 | |
rs1276738522 | 1.000 | 12 | 6232664 | start lost | A/G | snv | 4.9E-06 | 1 | |||
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs774027752 | 1.000 | 19 | 40845472 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 1 | ||
rs765502022 | 0.827 | 0.240 | 4 | 69112695 | missense variant | T/C | snv | 1.6E-05 | 8 | ||
rs28399499 | 0.827 | 0.280 | 19 | 41012316 | missense variant | T/C | snv | 5.1E-03 | 2.2E-02 | 6 | |
rs2395029 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 12 | |
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs58542926 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 42 | |
rs57302492 | 1.000 | 2 | 70831099 | missense variant | T/A | snv | 7.0E-02 | 8.9E-02 | 1 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs8177374 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 22 | |
rs3740996 | 1.000 | 11 | 5680051 | missense variant | G/A | snv | 0.13 | 0.10 | 1 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs4149056 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 45 | |
rs1048412 | 1.000 | 6 | 30064718 | 3 prime UTR variant | A/G | snv | 0.15 | 0.17 | 1 |