Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs5498 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
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
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1136410 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 70
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 58
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 48
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs2241880 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 37