Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs2234693 0.555 0.680 6 151842200 intron variant T/C snv 0.47 77
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs2243250
IL4
0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 61
rs4938723 0.574 0.680 11 111511840 intron variant T/C snv 0.32 60
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
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
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs4246215 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 29
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs121918464 0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs1275561861 0.672 0.360 6 29944350 missense variant G/A snv 23
rs2853677 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 19
rs3798577 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 16
rs387906659 0.742 0.280 19 40257052 stop gained C/A;T snv 14
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv 12
rs121913521
KIT
0.790 0.120 4 54727447 missense variant T/A;C;G snv 12
rs796065343 0.776 0.080 1 36467833 missense variant G/A snv 12
rs10821936 0.742 0.200 10 61963818 intron variant C/T snv 0.69 11