Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5490 0.925 0.080 19 10271151 5 prime UTR variant A/C snv 1.6E-02 6.7E-02 2
rs619824 0.925 0.080 10 102821531 intron variant A/C snv 0.50 2
rs137852603 1.000 0.080 10 110280017 missense variant A/C snv 1
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53
rs28366003 0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 10
rs2735839 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 7
rs2287939 0.851 0.160 5 33998778 missense variant A/C;G snv 1.6E-05; 0.70 4
rs565453 0.882 0.160 5 112849696 intron variant A/C;G snv 4
rs7127900 0.882 0.160 11 2212344 intergenic variant A/C;G snv 3
rs7130881 0.882 0.160 11 69228491 intergenic variant A/C;G snv 3
rs197056 0.925 0.080 16 1081695 upstream gene variant A/C;G snv 2
rs5030789 0.925 0.080 15 40694157 non coding transcript exon variant A/C;G snv 2
rs147739031 1.000 0.080 8 3389886 intron variant A/C;G snv 1
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 113
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs28897672 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 16
rs121913396 0.732 0.200 3 41224607 missense variant A/C;G;T snv 13
rs35767 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 13
rs3822214
KIT
0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 13
rs560596101 0.851 0.200 22 28725241 splice donor variant A/C;G;T snv 4.0E-06 5
rs17309872 0.925 0.080 20 34927985 downstream gene variant A/C;G;T snv 4
rs772893086 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 4
rs12611084 0.925 0.080 19 38255632 intron variant A/C;G;T snv 2
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs7041
GC
0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 64