Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs184967 0.925 0.080 5 80854162 missense variant A/G;T snv 0.87 2
rs3865014 0.851 0.080 15 69269179 missense variant G/A snv 0.75 0.69 8
rs2491231 0.925 0.080 13 28036046 splice region variant A/G snv 0.71 0.61 2
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs12075 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 22
rs11615 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs2363956 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 8
rs8100241 0.827 0.120 19 17282085 missense variant G/A snv 0.47 0.47 5
rs799917 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 18
rs2288349 0.882 0.120 19 10146569 intron variant G/A snv 0.36 0.35 5
rs8176318 0.807 0.120 17 43045257 3 prime UTR variant C/A snv 0.34 0.29 6
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1801133 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 174
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1042821 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 16
rs8170 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 13
rs1726801 0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14 4
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs4986850 0.851 0.080 17 43093454 missense variant C/A;T snv 5.8E-02 4
rs1800067 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 17
rs2228014 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 14