Gene: XPC ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs374117852
rs374117852
XPC
2 0.925 0.160 3 14152376 stop gained T/A snv 3.5E-05 0.700 1.000 3 2006 2013
dbSNP: rs752088918
rs752088918
XPC
2 0.925 0.160 3 14167223 frameshift variant AT/- delins 2.4E-05 2.1E-05 0.700 1.000 3 2000 2007
dbSNP: rs754532049
rs754532049
XPC
2 0.925 0.160 3 14158239 frameshift variant CA/- delins 2.0E-05 3.5E-05 0.700 1.000 2 2006 2016
dbSNP: rs754673606
rs754673606
XPC ; LOC107986063
2 0.925 0.160 3 14148732 splice acceptor variant C/G;T snv 2.4E-05 0.700 1.000 2 2011 2016
dbSNP: rs755825264
rs755825264
XPC
1 1.000 0.160 3 14168330 stop gained G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 2 2006 2013
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.010 1.000 1 2013 2013
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2018 2018
dbSNP: rs552453137
rs552453137
XPC
2 0.925 0.160 3 14165512 missense variant A/G snv 2.0E-05 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs757958943
rs757958943
XPC
2 0.925 0.160 3 14158640 stop gained G/A snv 1.2E-05 4.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs776865296
rs776865296
XPC
1 1.000 0.160 3 14158463 stop gained G/A snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs77907221
rs77907221
XPC
3 0.882 0.160 3 14154795 intron variant AATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAATTTATAAATATTATAAATTATTATAAAAAATT/- delins 0.010 1.000 1 2018 2018