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: rs3761121
rs3761121
ZGPAT
1 1.000 0.040 20 63711343 intron variant T/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs71305152
rs71305152
ZFPM2
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs5019252
rs5019252
ZBTB46
1 1.000 0.040 20 63746996 synonymous variant C/T snv 0.34 0.30 0.010 1.000 1 2012 2012
dbSNP: rs648044
rs648044
ZBTB16 ; LOC101928875
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs6519265
rs6519265
XRCC6
1 1.000 0.040 22 41629346 intron variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs3770502
rs3770502
XRCC5
1 1.000 0.040 2 216180336 intron variant C/T snv 0.12 0.010 1.000 1 2007 2007
dbSNP: rs828704
rs828704
XRCC5
1 1.000 0.040 2 216128888 intron variant C/A snv 0.81 0.010 1.000 1 2007 2007
dbSNP: rs9288516
rs9288516
XRCC5
6 0.827 0.120 2 216188541 intron variant T/A snv 5.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.020 0.500 2 2015 2016
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.030 0.667 3 2013 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.933 15 2010 2017
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.100 0.929 14 2010 2017
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.090 0.889 9 2012 2017
dbSNP: rs1214285376
rs1214285376
XRCC1
8 0.776 0.200 19 43543490 missense variant G/T snv 4.0E-06 0.010 1.000 1 2014 2014
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: rs199613843
rs199613843
XRCC1
6 0.807 0.160 19 43551609 synonymous variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2307191
rs2307191
XRCC1
5 0.827 0.120 19 43553616 missense variant G/A snv 1.2E-03 4.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs25490
rs25490
XRCC1
4 0.851 0.120 19 43552189 missense variant T/C snv 7.2E-03 2.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs72554204
rs72554204
XRCC1
5 0.827 0.120 19 43546062 missense variant C/T snv 1.2E-04 1.3E-04 0.010 1.000 1 2013 2013
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 < 0.001 1 2008 2008
dbSNP: rs11196067
rs11196067
VTI1A
10 0.752 0.160 10 112709306 intron variant A/T snv 0.32 0.020 1.000 2 2017 2018
dbSNP: rs10506868
rs10506868
VTI1A
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs11599775
rs11599775
VTI1A
2 1.000 0.040 10 112699938 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs12241008
rs12241008
VTI1A
16 0.716 0.160 10 112520943 intron variant T/C snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.030 1.000 3 2011 2018