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: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2007 2007
dbSNP: rs74737358
rs74737358
XPC
2 0.925 0.160 3 14158882 missense variant G/A;T snv 8.1E-06; 2.6E-03 0.010 1.000 1 2019 2019