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: rs4975616
rs4975616
12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.020 1.000 2 2010 2013
dbSNP: rs12296850
rs12296850
3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs736775
rs736775
1 5 151029787 downstream gene variant T/C snv 0.56 0.010 1.000 1 2018 2018
dbSNP: rs750749
rs750749
1 6 14141866 downstream gene variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs9370729
rs9370729
1 6 14138061 downstream gene variant C/T snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs10503380
rs10503380
2 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1799724
rs1799724
LTA ; TNF
47 0.600 0.680 6 31574705 upstream gene variant C/T snv 8.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2564978
rs2564978
6 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs2853669
rs2853669
35 0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs3136038
rs3136038
13 0.763 0.200 16 13919522 upstream gene variant C/T snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs3760396
rs3760396
13 0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15 0.010 < 0.001 1 2016 2016
dbSNP: rs6495309
rs6495309
10 0.807 0.080 15 78622903 upstream gene variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs689465
rs689465
7 0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs7309332
rs7309332
3 1.000 0.040 12 7938243 upstream gene variant T/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4072037
rs4072037
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.080 1.000 8 2009 2016
dbSNP: rs1397529
rs1397529
4 0.882 0.080 4 143471009 3 prime UTR variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs139852726
rs139852726
4 0.882 0.080 5 1462734 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2229090
rs2229090
XPC
6 0.827 0.160 3 14145845 3 prime UTR variant G/C snv 0.25 0.22 0.010 1.000 1 2017 2017
dbSNP: rs2853677
rs2853677
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2015 2015