Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs908832 | 0.851 | 0.120 | 9 | 137018032 | missense variant | A/C;G | snv | 0.97 | 0.96 | 4 | |
rs505151 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 18 | |
rs4576240 | 1.000 | 0.040 | 6 | 24596250 | missense variant | T/A;G | snv | 4.0E-06; 0.92 | 0.91 | 1 | |
rs352493 | 0.882 | 0.040 | 19 | 4180839 | missense variant | C/G;T | snv | 0.88 | 3 | ||
rs562556 | 0.827 | 0.280 | 1 | 55058564 | missense variant | G/A | snv | 0.86 | 0.83 | 8 | |
rs2230301 | 1.000 | 0.040 | 1 | 220024283 | missense variant | G/T | snv | 0.84 | 0.86 | 1 | |
rs891512 | 0.925 | 0.040 | 7 | 151011001 | intron variant | A/G | snv | 0.84 | 0.85 | 4 | |
rs1051931 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 19 | |
rs2288904 | 0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 | 8 | |
rs2229238 | 0.851 | 0.080 | 1 | 154465420 | 3 prime UTR variant | T/A;C | snv | 0.80 | 5 | ||
rs2298566 | 0.827 | 0.040 | 11 | 130880747 | missense variant | A/C;T | snv | 0.77; 4.0E-06 | 5 | ||
rs1549758 | 0.807 | 0.360 | 7 | 150998638 | synonymous variant | T/C | snv | 0.76 | 0.76 | 7 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2227564 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 15 | |
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs2168518 | 0.851 | 0.160 | 15 | 74788737 | mature miRNA variant | G/A | snv | 0.71 | 0.44 | 4 | |
rs428785 | 0.882 | 0.040 | 21 | 26844276 | missense variant | C/A;G;T | snv | 1.3E-05; 0.70 | 0.78 | 3 | |
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs216311 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 7 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs3748570 | 1.000 | 0.040 | 1 | 156670364 | missense variant | G/A | snv | 0.68 | 0.67 | 1 |