Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1051740 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 56
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs2234922 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 42
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 32
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs2292832 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 46
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs1049253 0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13 4
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs1573496 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 7
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs749710704 0.790 0.160 5 79119289 missense variant C/G;T snv 4.0E-06; 4.0E-06 7
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs11016879 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 4
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs4919510 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 32
rs1138272 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 34
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs671 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 116