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: rs12373
rs12373
ZG16B
2 0.925 0.080 16 2832196 3 prime UTR variant G/T snv 0.66 0.63 0.010 1.000 1 2015 2015
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: rs11685387
rs11685387
XRCC5
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs9288518
rs9288518
XRCC5
9 0.776 0.240 2 216196997 intron variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs2075686
rs2075686
XRCC4 ; TMEM167A
13 0.742 0.240 5 83076927 intron variant C/T snv 1.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs7727691
rs7727691
XRCC4 ; TMEM167A
9 0.763 0.200 5 83075876 intron variant C/T snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.010 1.000 1 2010 2010
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 1.000 1 2010 2010
dbSNP: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2010 2010
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 2011 2011
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.867 15 2004 2015
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.080 0.875 8 2009 2016
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.020 1.000 2 2010 2012
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 0.750 4 2007 2014
dbSNP: rs2228000
rs2228000
XPC
53 0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 0.020 1.000 2 2014 2015
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 2017 2017
dbSNP: rs10883782
rs10883782
WBP1L
2 0.925 0.080 10 102824175 intron variant A/G snv 0.14 0.010 1.000 1 2011 2011
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: rs11196067
rs11196067
VTI1A
10 0.752 0.160 10 112709306 intron variant A/T snv 0.32 0.010 1.000 1 2018 2018
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: rs7086803
rs7086803
VTI1A
9 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs914956206
rs914956206
VEGFA
4 0.882 0.080 6 43770762 missense variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11574143
rs11574143
VDR
5 0.827 0.200 12 47841134 downstream gene variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs2238136
rs2238136
VDR
2 0.925 0.080 12 47883930 intron variant C/T snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs2254210
rs2254210
VDR
2 0.925 0.080 12 47879931 intron variant G/A;C snv 0.010 1.000 1 2016 2016