Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6545977 0.882 0.160 2 63074029 regulatory region variant G/A snv 0.50 3
rs10496040 1.000 0.120 2 55080510 5 prime UTR variant C/A snv 9.1E-02 1
rs117465650 1.000 0.120 2 55050090 missense variant C/T snv 0.12 6.1E-02 1
rs17046583 1.000 0.120 2 55001811 intron variant A/G snv 6.8E-02 1
rs232228 1.000 0.120 2 88859459 intron variant G/A snv 0.15 1
rs232230 1.000 0.120 2 88857435 missense variant C/G snv 0.14 0.17 1
rs2588519 1.000 0.120 2 54977988 intron variant T/C snv 0.68 1
rs2920891 1.000 0.120 2 55080901 intron variant C/A;T snv 1
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
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2660753 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 9
rs3755557 0.807 0.280 3 120096110 non coding transcript exon variant T/A snv 0.14 6
rs2073495
LTF
0.851 0.200 3 46439467 missense variant C/A;G snv 4.9E-04; 0.33 4
rs3864004 0.882 0.200 3 41198686 5 prime UTR variant G/A snv 0.40 4
rs6774494 0.882 0.160 3 169364845 intron variant G/A snv 0.42 4
rs710521 0.851 0.200 3 189928144 intergenic variant T/C snv 0.24 4
rs9110
LTF
0.851 0.200 3 46439310 missense variant A/C;G;T snv 0.39 0.40 4
rs10934853 0.882 0.160 3 128319530 intron variant C/A snv 0.43 3
rs17181170 0.882 0.160 3 87124174 intron variant G/A snv 0.38 3
rs2269432 0.882 0.120 3 50296800 missense variant T/A;G snv 0.13 3
rs189897 1.000 0.120 3 37477054 intron variant T/A snv 0.13 2
rs200046052 1.000 0.120 3 49902693 missense variant C/G;T snv 1.8E-04; 3.6E-05 2
rs169111 1.000 0.120 3 37474042 intron variant C/T snv 0.84 1
rs169188 1.000 0.120 3 37465958 intron variant G/A snv 7.6E-02 1