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: rs1800870
rs1800870
ALDH3A2
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1816158
rs1816158
MIR100HG
3 0.925 0.200 11 122155752 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs20417
rs20417
PTGS2 ; PACERR
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2046463
rs2046463
LOC105377555
3 1.000 0.080 4 176681548 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2075685
rs2075685
XRCC4 ; TMEM167A
14 0.724 0.320 5 83076846 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2228387
rs2228387
CRYAB ; HSPB2 ; HSPB2-C11orf52
5 0.851 0.160 11 111911560 synonymous variant C/G;T snv 1.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs2289520
rs2289520
SERPINB5
3 0.925 0.120 18 63493087 missense variant G/A;C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs2292566
rs2292566
EPHX1
2 1.000 0.080 1 225831952 synonymous variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs28903081
rs28903081
KLC1 ; XRCC3
5 0.851 0.200 14 103698934 missense variant C/A;T snv 4.5E-06; 4.3E-04 0.010 1.000 1 2014 2014
dbSNP: rs3129780
rs3129780 		6 0.827 0.080 6 32679924 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs334348
rs334348
TGFBR1
5 0.851 0.160 9 99150189 3 prime UTR variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2014 2014
dbSNP: rs3813867
rs3813867
CYP2E1 ; LOC107984284
13 0.732 0.240 10 133526101 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs3828805
rs3828805
HLA-DQB1
12 0.752 0.160 6 32668343 5 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs3829078
rs3829078
CA9
6 0.851 0.160 9 35679254 missense variant A/G;T snv 8.2E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs511044
rs511044
CASP5
3 0.925 0.120 11 105024783 upstream gene variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs587778718
rs587778718
TP53
2 1.000 0.080 17 7674959 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587782705
rs587782705
TP53
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs678653
rs678653
CCND1
5 0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs748500299
rs748500299
PTGS2
8 0.790 0.200 1 186675960 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs751763046
rs751763046
EXO1
8 0.790 0.200 1 241885375 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009