Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1800566 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 59
rs121912438 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 58
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 51
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs1801157 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 46
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 46
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 42
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 42
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs1051266 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 41
rs775144154 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 38
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs3184504 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 29
rs2070874
IL4
0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 27
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 23
rs1275561861 0.672 0.360 6 29944350 missense variant G/A snv 23
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 23
rs11547328 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 22
rs1801132 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 22