Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2735839 0.827 0.160 19 50861367 upstream gene variant A/C;G snv 5
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
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
rs7127900 0.882 0.160 11 2212344 intergenic variant A/C;G snv 2
rs854560 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 110
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
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
rs28897672 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 10
rs772893086 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 4
rs121913396 0.732 0.200 3 41224607 missense variant A/C;G;T snv 2
rs12611084 0.925 0.080 19 38255632 intron variant A/C;G;T snv 2
rs17309872 0.925 0.080 20 34927985 downstream gene 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 61
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 37
rs1447295 0.658 0.400 8 127472793 intron variant A/C;T snv 28
rs1057519966 0.882 0.080 17 49619064 missense variant A/C;T snv 2
rs4955720 0.925 0.080 3 170310812 downstream gene variant A/C;T snv 2
rs5945372 0.925 0.080 X 153400456 intron variant A/C;T snv 2
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 187
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135