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: rs1800067
rs1800067
ERCC4
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs2020959
rs2020959
ERCC4
4 0.882 0.200 16 13947765 stop gained C/A;T snv 3.2E-05; 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs121913028
rs121913028
ERCC1
4 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs1799801
rs1799801
ERCC4
9 0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25 0.010 1.000 1 2016 2016
dbSNP: rs1799802
rs1799802
ERCC4
2 0.925 0.200 16 13934224 missense variant C/T snv 4.0E-03 4.6E-03 0.010 1.000 1 2019 2019
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