Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs16944 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs3918242 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs1057520007 0.701 0.440 17 7674917 missense variant T/A;C;G snv 21
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs2267437 0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs1801320 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 15
rs8179090 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 12
rs267606870 0.763 0.280 15 90088703 missense variant G/A;C snv 11
rs1470755915 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 10
rs1057519960 0.827 0.280 11 66063413 missense variant A/G snv 7
rs121913488 0.807 0.120 13 28018505 missense variant C/A;G;T snv 7
rs869312828 0.807 0.080 5 177512369 missense variant C/T snv 7
rs1265794840 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 6
rs1408538785 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 6