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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2009 2009
dbSNP: rs4150351
rs4150351
ERCC5 ; BIVM-ERCC5
2 0.925 0.160 13 102870617 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4253211
rs4253211
ERCC6
3 0.882 0.240 10 49470271 missense variant C/G;T snv 7.1E-02; 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs561841803
rs561841803
XPC
1 1.000 0.160 3 14158384 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2007 2007
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
dbSNP: rs929424117
rs929424117
ERCC5 ; BIVM-ERCC5
2 0.925 0.160 13 102866645 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019