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: rs9841504
rs9841504
ZBTB20
7 0.827 0.120 3 114643917 intron variant C/G;T snv 0.720 0.667 3 2011 2016
dbSNP: rs3747093
rs3747093
YDJC
16 0.732 0.200 22 21630090 upstream gene variant G/A snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs828907
rs828907
XRCC5
6 0.827 0.160 2 216108009 intron variant G/T snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.010 1.000 1 2015 2015
dbSNP: rs861528
rs861528
XRCC3 ; ZFYVE21
2 0.925 0.080 14 103716661 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.750 16 2002 2018
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 1.000 10 2005 2016
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.060 0.667 6 2002 2016
dbSNP: rs148611340
rs148611340
XRCC1
7 0.790 0.120 19 43543621 missense variant G/A;C snv 4.0E-06; 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs2293035
rs2293035
XRCC1
3 0.882 0.080 19 43546923 synonymous variant G/A snv 1.6E-04 1.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs377566281
rs377566281
XRCC1
3 0.925 0.080 19 43552083 missense variant C/T snv 5.6E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1870134
rs1870134
XPC ; LSM3
5 0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 0.010 1.000 1 2016 2016
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 2016 2016
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.020 0.500 2 2014 2016
dbSNP: rs2470352
rs2470352
XPC
2 0.925 0.080 3 14145330 missense variant A/G;T snv 1.7E-03; 0.15 0.010 1.000 1 2016 2016
dbSNP: rs535242729
rs535242729
XPC
2 0.925 0.080 3 14172913 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1408543226
rs1408543226
XPA
6 0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2808668
rs2808668
XPA
7 0.851 0.120 9 97690153 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs376040996
rs376040996
XPA
7 0.790 0.120 9 97687210 missense variant T/C;G snv 1.2E-05; 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs207454
rs207454
XDH
4 0.851 0.120 2 31344766 intron variant T/G snv 0.11 0.16 0.010 1.000 1 2018 2018
dbSNP: rs494852
rs494852
XDH
2 0.925 0.080 2 31401970 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2012 2018
dbSNP: rs10434
rs10434
VEGFA
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2018 2018
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2009 2009