Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs77907221
XPC
0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 3
rs104894132
XPA
0.925 0.160 9 97675579 stop gained G/A snv 3.0E-04 3.2E-04 2
rs1200172747
XPA
0.925 0.160 9 97689570 frameshift variant TAAGA/- delins 4.0E-06 2.1E-05 2
rs121434570
BIVM-ERCC5 ; ERCC5
0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06 2
rs149226993
XPA
0.925 0.160 9 97684965 stop gained G/A snv 4.0E-06 2
rs1554701103
XPA
0.925 0.160 9 97684929 frameshift variant -/T delins 2
rs374117852
XPC
0.925 0.160 3 14152376 stop gained T/A snv 3.5E-05 2
rs552453137
XPC
0.925 0.160 3 14165512 missense variant A/G snv 2.0E-05 7.0E-06 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
LOC107986063 ; XPC
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
rs929424117
ERCC5 ; BIVM-ERCC5
0.925 0.160 13 102866645 missense variant T/C snv 4.0E-06 2
rs1192077068
GSTM1 ; GSTM2
1.000 0.160 1 109687896 stop gained G/A snv 1.5E-05 1
rs1283214655
BIVM-ERCC5 ; ERCC5
1.000 0.160 13 102862320 frameshift variant -/T delins 1
rs755825264
XPC
1.000 0.160 3 14168330 stop gained G/A;C snv 1.6E-05; 4.0E-06 1
rs776705174
ERCC2
1.000 0.160 19 45357267 splice donor variant -/A delins 4.0E-06; 1.6E-05 2.1E-05 1
rs776865296
XPC
1.000 0.160 3 14158463 stop gained G/A snv 1.2E-05 1
rs770998368
ERCC5 ; BIVM-ERCC5
0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 5
rs121913049
ERCC4
0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 4
rs121913050
ERCC4
0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06 3
rs1554788393
ERCC6
0.882 0.240 10 49482818 missense variant T/C snv 3
rs1232856265
ERCC3
0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05 2
rs147105770
ERCC4
0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 8
rs41556519
ERCC2
0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05 6