Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1137101 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 77
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs1163944538 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1352010373 0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1128503 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 56
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs4149056 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 45
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs1555206402 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 26
rs1448674651 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 23
rs601338 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 19
rs2306283 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 16
rs529855742 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs4149117 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 15
rs2231137 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 13
rs1801265 0.763 0.280 1 97883329 missense variant A/G snv 0.28 13
rs142110773 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs1057910 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 12