Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs11016879 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 4
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs8126 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 8
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs1979277 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 45
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs1049253 0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13 4
rs1573496 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 7
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1138272 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614