Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs773862672 0.882 0.280 1 11247922 missense variant G/A;C snv 1.2E-05 6
rs438034 0.882 0.120 1 214657274 stop gained A/G;T snv 0.61 4
rs762807774 1.000 0.040 1 1228495 frameshift variant CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC delins 7.0E-06 2
rs104893626 0.827 0.280 2 136114915 stop gained G/C snv 11
rs4987188 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 11
rs17217772 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 10
rs1418810723
FN1
0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 9
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs969139366 4 54277974 missense variant T/C snv 3.5E-05 3
rs10009228 4 40354405 missense variant A/G snv 0.78 0.76 1
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs1285136498 0.807 0.080 5 143400101 missense variant G/A snv 13
rs4880 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1443465532 0.882 0.080 6 43774362 missense variant G/C snv 4.0E-06 7.0E-06 6
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G 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
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs2227983 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 31
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19