Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs6265 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 272
rs759834365 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 237
rs752298579 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 35
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 35
rs370717845 0.763 0.320 8 43161462 missense variant G/A snv 33
rs375817528 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs63750231 0.689 0.160 14 73198100 missense variant A/C;G snv 23
rs148881970 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 22
rs555145190 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 21
rs267606959 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 19
rs398122394 0.763 0.240 X 111685040 missense variant A/G snv 17
rs1990622 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 16
rs35135520 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 12
rs776019250 0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 12
rs12273363 0.807 0.120 11 27723312 intron variant T/C snv 0.16 11
rs774843232 0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 9
rs363050 0.790 0.240 20 10253609 intron variant G/A snv 0.57 8
rs908867 0.851 0.160 11 27724217 intron variant C/G;T snv 7
rs2298813 0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06 7
rs704180 0.807 0.240 12 21841177 intron variant A/G snv 0.55 6
rs730882249 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 6
rs7127507 0.827 0.080 11 27693337 intron variant T/C snv 0.34 6
rs7354779 0.827 0.200 21 44250887 missense variant T/C snv 0.21 6
rs1114167300 0.925 0.040 3 7578878 missense variant C/T snv 6