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: rs12150079
rs12150079
ZPBP2
9 0.807 0.280 17 39869164 intron variant G/A snv 0.24 0.010 1.000 1 2018 2018
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 2013 2013
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
13 0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 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 0.090 0.778 9 2005 2019
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.050 0.600 5 2008 2017
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.050 0.200 5 2012 2017
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2010 2010
dbSNP: rs11202058
rs11202058
WAPL
3 0.882 0.080 10 86522854 non coding transcript exon variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs7083506
rs7083506
WAPL
3 0.882 0.080 10 86439911 intron variant C/T snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs1292037
rs1292037
VMP1 ; MIR21
6 0.827 0.200 17 59841547 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs13137
rs13137
VMP1 ; MIR21
5 0.827 0.160 17 59841670 3 prime UTR variant A/T snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs4604006
rs4604006
VEGFC ; LOC105377555
3 0.882 0.080 4 176687621 intron variant T/C snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs12646659
rs12646659
VEGFC
3 0.882 0.080 4 176764117 intron variant C/G snv 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 1.000 2 2015 2015
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2015 2015
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 2015 2015
dbSNP: rs25648
rs25648
VEGFA
11 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 0.010 1.000 1 2015 2015
dbSNP: rs833061
rs833061
VEGFA
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs833068
rs833068
VEGFA
4 0.851 0.120 6 43774790 non coding transcript exon variant G/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs833070
rs833070
VEGFA
11 0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs1003897973
rs1003897973
TRIP10 ; LOC107985302
3 0.882 0.080 19 6746039 missense variant C/G snv 0.010 < 0.001 1 2002 2002
dbSNP: rs560191
rs560191
TP53BP1
12 0.763 0.280 15 43475576 missense variant G/C;T snv 0.36; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs944309752
rs944309752
TP53BP1
3 0.882 0.080 15 43421159 synonymous variant G/C snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.923 13 2002 2018