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: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 1.000 2 2015 2015
dbSNP: rs3218536
rs3218536
XRCC2
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 0.833 6 2006 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.040 1.000 4 2006 2016
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2016 2019
dbSNP: rs139599857
rs139599857
XRCC1
3 0.882 0.120 19 43545922 missense variant C/G snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs2607775
rs2607775
XPC ; LSM3
8 0.807 0.160 3 14178595 5 prime UTR variant C/G snv 0.42 0.43 0.010 1.000 1 2018 2018
dbSNP: rs3731055
rs3731055
XPC ; LSM3
2 0.925 0.120 3 14178939 intron variant C/T snv 1.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs2470353
rs2470353
XPC ; LOC107986063
2 0.925 0.120 3 14148768 intron variant G/A;C;T snv 0.41; 1.5E-04 0.010 1.000 1 2018 2018
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 2018 2018
dbSNP: rs3729587
rs3729587
XPC
2 0.925 0.120 3 14167125 intron variant G/C snv 0.31 0.34 0.010 1.000 1 2018 2018
dbSNP: rs3731114
rs3731114
XPC
2 0.925 0.120 3 14165122 intron variant C/G snv 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs11644322
rs11644322
WWOX
3 0.925 0.120 16 79005703 intron variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs2239186
rs2239186
VDR
5 0.882 0.120 12 47875627 intron variant A/C;G snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs145733073
rs145733073
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
2 0.925 0.120 2 233682175 missense variant T/C;G snv 4.0E-06; 1.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs2235108
rs2235108
TRIB1
3 0.925 0.120 8 125436547 3 prime UTR variant G/A snv 0.25 0.010 < 0.001 1 2014 2014
dbSNP: rs2980874
rs2980874
TRIB1
2 0.925 0.120 8 125432546 intron variant G/A snv 0.30 0.010 < 0.001 1 2014 2014
dbSNP: rs7074891
rs7074891
TRDMT1
2 0.925 0.120 10 17146475 3 prime UTR variant C/T snv 0.95 0.010 1.000 1 2013 2013
dbSNP: rs935821839
rs935821839
TP73
2 0.925 0.120 1 3727199 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs949647240
rs949647240
TP73
2 0.925 0.120 1 3707693 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.040 1.000 4 2004 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2010 2011
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2011