Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
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
rs767551092
XPC
0.790 0.200 3 14164838 missense variant G/A snv 4.0E-06 10
rs77907221
XPC
0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 3
rs374117852
XPC
0.925 0.160 3 14152376 stop gained T/A snv 3.5E-05 2
rs74737358
XPC
0.925 0.160 3 14158882 missense variant G/A;T snv 8.1E-06; 2.6E-03 2
rs752088918
XPC
0.925 0.160 3 14167223 frameshift variant AT/- delins 2.4E-05 2.1E-05 2
rs754532049
XPC
0.925 0.160 3 14158239 frameshift variant CA/- delins 2.0E-05 3.5E-05 2
rs754673606 0.925 0.160 3 14148732 splice acceptor variant C/G;T snv 2.4E-05 2
rs757958943
XPC
0.925 0.160 3 14158640 stop gained G/A snv 1.2E-05 4.9E-05 2
rs1208223013
XPC
1.000 0.160 3 14170440 frameshift variant -/C delins 4.0E-06 1
rs121965088
XPC
1.000 0.160 3 14158148 stop gained G/A snv 1.2E-05 1
rs1228981894
XPC
1.000 0.160 3 14170507 frameshift variant CT/- delins 4.0E-06 7.0E-06 1
rs1260189637
XPC
1.000 0.160 3 14173038 frameshift variant G/- delins 1.4E-05 1
rs1281090187 1.000 0.160 3 14148665 stop gained G/A snv 1
rs1309116467 1.000 0.160 3 14148869 frameshift variant -/G delins 2.1E-05 1
rs1326646197
XPC
1.000 0.160 3 14167254 splice acceptor variant C/G snv 1
rs1330667099
XPC
1.000 0.160 3 14168370 frameshift variant CACT/- delins 1
rs1402162002
XPC
1.000 0.160 3 14168347 frameshift variant TC/- delins 1.2E-05 7.0E-06 1
rs1423398589
LSM3 ; XPC
1.000 0.160 3 14178465 splice donor variant C/A;T snv 1
rs1450238352
XPC
1.000 0.160 3 14158779 frameshift variant TT/- del 2.1E-05 1
rs1553604549 1.000 0.160 3 14148645 frameshift variant -/A delins 1
rs1553604552 1.000 0.160 3 14148650 frameshift variant -/G delins 1