Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2275725 | 1.000 | 0.080 | 10 | 133275531 | missense variant | A/G | snv | 0.89 | 0.90 | 1 | |
rs6003 | 0.851 | 0.240 | 1 | 197061891 | missense variant | C/T | snv | 0.88 | 0.76 | 5 | |
rs2995300 | 1.000 | 0.080 | 10 | 133263019 | 3 prime UTR variant | C/A | snv | 0.87 | 0.83 | 1 | |
rs6809699 | 1.000 | 0.080 | 3 | 151338810 | synonymous variant | A/C | snv | 0.87 | 0.88 | 2 | |
rs562556 | 0.827 | 0.280 | 1 | 55058564 | missense variant | G/A | snv | 0.86 | 0.83 | 8 | |
rs1613662 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 8 | |
rs2302685 | 0.827 | 0.240 | 12 | 12148964 | missense variant | C/T | snv | 0.85 | 0.84 | 5 | |
rs2251393 | 1.000 | 0.080 | 17 | 62701571 | 3 prime UTR variant | G/A;C | snv | 0.85; 4.9E-05 | 3 | ||
rs2057482 | 0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 | 21 | |
rs1051931 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 19 | |
rs14309 | 1.000 | 0.080 | 17 | 7015774 | splice region variant | T/C | snv | 0.80 | 0.76 | 1 | |
rs42524 | 0.827 | 0.160 | 7 | 94413927 | missense variant | C/A;G;T | snv | 8.0E-06; 0.77; 8.0E-06 | 6 | ||
rs484319 | 1.000 | 0.080 | 12 | 69586361 | intron variant | G/A;C;T | snv | 0.77 | 1 | ||
rs4407312 | 1.000 | 0.080 | 20 | 23826391 | intron variant | A/C;G;T | snv | 0.76; 4.1E-06; 6.6E-05 | 1 | ||
rs2351791 | 0.925 | 0.080 | 4 | 47580370 | intron variant | A/C;T | snv | 0.76 | 2 | ||
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 | |
rs2230808 | 0.827 | 0.240 | 9 | 104800523 | missense variant | T/C | snv | 0.71 | 0.60 | 6 | |
rs1042034 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 15 | |
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1144507 | 0.925 | 0.080 | 11 | 123729767 | missense variant | A/C;G;T | snv | 0.68 | 2 |