Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 121
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs1501299 0.597 0.720 3 186853334 intron variant G/C;T snv 52
rs149617956 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 32
rs1129055 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 15
rs17281995 0.763 0.360 3 122120794 3 prime UTR variant G/A;C snv 11
rs2607775
XPC ; LSM3
0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 8
rs587778883 0.807 0.200 3 37025648 frameshift variant A/- del 7
rs762581936 0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05 5
rs56053615 0.851 0.120 3 9751845 missense variant G/A;T snv 3.4E-04; 4.0E-06 4
rs587778992 0.882 0.200 3 37050606 stop gained C/T snv 4
rs752967378 0.882 0.160 3 12618580 missense variant G/A;C snv 4.0E-06 3
rs1235228469 0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06 2
rs1276300653 0.925 0.120 3 9757072 missense variant T/C snv 7.0E-06 2
rs138147246 0.925 0.120 3 9756551 synonymous variant A/G snv 8.0E-06 1.4E-05 2
rs139632793 0.925 0.120 3 9751114 missense variant G/C snv 5.2E-05 1.7E-04 2
rs145574072 0.925 0.120 3 9754765 synonymous variant T/C snv 4.0E-06 2
rs149243735 0.925 0.120 3 9751076 missense variant C/A snv 4.0E-06 2
rs2470353 0.925 0.120 3 14148768 intron variant G/A;C;T snv 0.41; 1.5E-04 2
rs3729587
XPC
0.925 0.120 3 14167125 intron variant G/C snv 0.31 0.34 2
rs3731055
XPC ; LSM3
0.925 0.120 3 14178939 intron variant C/T snv 1.9E-02 2
rs3731114
XPC
0.925 0.120 3 14165122 intron variant C/G snv 1.8E-02 2
rs4927850 0.925 0.120 3 196024759 intron variant T/C snv 0.71 2
rs782095550 0.925 0.120 3 51386267 missense variant T/C snv 2
rs9854771 0.925 0.240 3 189790682 intron variant G/A snv 0.34 2