Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770998368
ERCC5 ; BIVM-ERCC5
0.827 0.240 13 102861511 missense variant C/G;T snv 4.0E-06 5
rs1283214655
BIVM-ERCC5 ; ERCC5
1.000 0.160 13 102862320 frameshift variant -/T delins 1
rs929424117
ERCC5 ; BIVM-ERCC5
0.925 0.160 13 102866645 missense variant T/C snv 4.0E-06 2
rs121434570
BIVM-ERCC5 ; ERCC5
0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06 2
rs17655
BIVM-ERCC5 ; ERCC5
0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs1192077068
GSTM1 ; GSTM2
1.000 0.160 1 109687896 stop gained G/A snv 1.5E-05 1
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1232856265
ERCC3
0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05 2
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
rs147105770
ERCC4
0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 8
rs121913049
ERCC4
0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 4
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs754673606
LOC107986063 ; XPC
0.925 0.160 3 14148732 splice acceptor variant C/G;T snv 2.4E-05 2
rs374117852
XPC
0.925 0.160 3 14152376 stop gained T/A snv 3.5E-05 2
rs77907221
XPC
0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 3
rs754532049
XPC
0.925 0.160 3 14158239 frameshift variant CA/- delins 2.0E-05 3.5E-05 2
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs776865296
XPC
1.000 0.160 3 14158463 stop gained G/A snv 1.2E-05 1
rs757958943
XPC
0.925 0.160 3 14158640 stop gained G/A snv 1.2E-05 4.9E-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
rs755825264
XPC
1.000 0.160 3 14168330 stop gained G/A;C snv 1.6E-05; 4.0E-06 1
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs13181
KLC3 ; ERCC2
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134