Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs3025039 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 62
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 61
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 55
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 54
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 38
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1143634 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 51
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 51
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 46
rs3775291 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 51
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 47
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 45