Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4536 | 8 | 142914345 | synonymous variant | C/T | snv | 0.90 | 0.94 | 1 | |||
rs316019 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 8 | |
rs1991517 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 13 | |
rs7406910 | 17 | 48610894 | missense variant | T/C | snv | 0.88 | 0.88 | 3 | |||
rs651821 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 17 | |
rs5522 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 19 | |
rs891512 | 0.925 | 0.040 | 7 | 151011001 | intron variant | A/G | snv | 0.84 | 0.85 | 4 | |
rs650439 | 1.000 | 0.080 | 13 | 33061802 | intron variant | T/A | snv | 0.82 | 0.81 | 3 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs3865014 | 0.851 | 0.080 | 15 | 69269179 | missense variant | G/A | snv | 0.75 | 0.69 | 8 | |
rs9907379 | 17 | 61412532 | non coding transcript exon variant | T/C | snv | 0.74 | 0.77 | 1 | |||
rs1801253 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 34 | |
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 | |
rs3890011 | 0.925 | 0.040 | 1 | 46933071 | intron variant | G/C | snv | 0.71 | 0.65 | 3 | |
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs7302981 | 12 | 50144032 | missense variant | A/G;T | snv | 0.69 | 0.71 | 4 | |||
rs5516 | 0.827 | 0.120 | 19 | 50820217 | missense variant | C/G | snv | 0.69 | 0.67 | 6 | |
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
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 | |
rs4532 | 0.827 | 0.160 | 5 | 175443147 | 5 prime UTR variant | C/T | snv | 0.68 | 0.72 | 7 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs235768 | 0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 | 8 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 |