Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3783553 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 26
rs523349 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 21
rs7581886 0.708 0.320 2 100964784 intron variant C/T snv 0.92 18
rs763059810 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 41
rs766914563 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 16
rs781172058 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 16
rs895520 0.689 0.320 2 100961475 intron variant G/A snv 0.35 23
rs9282858 0.716 0.320 2 31580756 missense variant C/T snv 1.8E-02 2.1E-02 16
rs1050450 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 43
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs1799864 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 68
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1801282 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1801725 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 39
rs1801726 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 13
rs2071203 0.827 0.120 3 50274469 missense variant C/T snv 0.12 9.9E-02 6
rs2082940 0.763 0.480 3 186856375 3 prime UTR variant T/A;C snv 10
rs3774262 0.851 0.200 3 186854025 intron variant G/A snv 0.10 5
rs822391 0.925 0.080 3 186846014 intron variant C/T snv 0.85 4
rs11943456 0.708 0.320 4 55410167 intron variant T/C snv 0.42 18
rs1902023 0.882 0.080 4 68670366 missense variant A/C snv 0.51 0.53 4
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs10069690 0.595 0.560 5 1279675 intron variant C/T snv 0.36 53