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: rs180067
rs180067
LINC01497
1 1.000 0.160 17 69961633 non coding transcript exon variant G/A;C;T snv 0.010 < 0.001 1 2013 2013
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: 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: rs744154
rs744154
ERCC4
11 0.763 0.280 16 13921224 intron variant G/C snv 0.23 0.010 1.000 1 2010 2010
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
dbSNP: rs759843019
rs759843019
ERCC4
6 0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2007 2007