Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs118101777 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs3745274 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 30
rs752746786 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs2308321 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs4898 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 25
rs371769427 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 24
rs1057520007 0.701 0.440 17 7674917 missense variant T/A;C;G snv 21
rs2267437 0.724 0.320 22 41620695 intron variant C/A;G snv 19
rs121913502 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 19
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs1800067 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 17
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 16
rs147001633 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 15
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs755174338 0.732 0.360 19 45364096 missense variant C/T snv 2.6E-05 1.4E-05 15
rs1801320 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 15
rs559063155 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 14
rs745564626 0.752 0.280 14 103699003 missense variant C/G;T snv 4.3E-05 14