Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519975 0.649 0.480 17 7675209 missense variant A/C;G;T snv 34
rs1800624 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 33
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs760043106 0.645 0.440 17 7674947 missense variant A/C;G;T snv 32
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121913227 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 31
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs61764370 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs1057519903 0.683 0.080 1 226064434 missense variant A/T snv 28
rs11066280 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 27
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs1063192 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 24
rs712 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 24
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs2249825 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 23
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs2981582 0.695 0.360 10 121592803 intron variant A/G snv 0.58 21
rs2295080 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 20
rs12190287 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 19
rs121913444 0.724 0.160 7 55191831 missense variant T/A;C;G snv 18