Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 56
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 55
rs351855 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 55
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs759412116 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs2231142 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 54
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
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 51
rs3775291 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 51
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs2241766 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
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
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 46
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 45
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 43
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 42