Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs759412116
ERCC2
0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 55
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
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
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