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: rs11892031
rs11892031
UGT1A10 ; UGT1A8
5 0.882 0.120 2 233656637 intron variant A/C;T snv 0.030 0.667 3 2010 2015
dbSNP: rs1258159645
rs1258159645
NQO1
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.030 1.000 3 2011 2017
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.030 1.000 3 2010 2012
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2011 2015
dbSNP: rs25648
rs25648
VEGFA
11 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 0.030 1.000 3 2010 2019
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.030 0.667 3 2017 2019
dbSNP: rs762551
rs762551
CYP1A2
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.030 1.000 3 2015 2016
dbSNP: rs1014971
rs1014971 		3 0.882 0.120 22 38936618 regulatory region variant C/T snv 0.55 0.020 1.000 2 2010 2016
dbSNP: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.020 0.500 2 2004 2014
dbSNP: rs1046778
rs1046778
AS3MT ; BORCS7-ASMT ; LOC107984265
4 0.851 0.160 10 102901727 3 prime UTR variant T/C snv 0.30 0.020 1.000 2 2018 2018
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.020 1.000 2 2011 2013
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.020 0.500 2 2013 2014
dbSNP: rs10748835
rs10748835
AS3MT ; BORCS7-ASMT ; LOC107984265
5 0.827 0.160 10 102900499 non coding transcript exon variant G/A snv 0.41 0.020 1.000 2 2018 2018
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.020 1.000 2 2014 2019
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.020 1.000 2 2007 2019
dbSNP: rs1495741
rs1495741 		9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.020 1.000 2 2014 2016
dbSNP: rs153109
rs153109
IL27
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.020 1.000 2 2015 2015
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 0.500 2 2011 2014
dbSNP: rs17674580
rs17674580
SLC14A1 ; LOC105372093
3 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 0.020 1.000 2 2014 2014
dbSNP: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.020 1.000 2 2015 2015
dbSNP: rs1800371
rs1800371
TP53
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.020 0.500 2 2011 2011
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2013 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2004 2009
dbSNP: rs1805377
rs1805377
XRCC4
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.020 1.000 2 2007 2013
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.020 1.000 2 2012 2014