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: rs2549513
rs2549513
MAF
4 0.851 0.080 16 79516830 downstream gene variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs4420638
rs4420638
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs460976
rs460976
7 0.851 0.120 21 41463567 downstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs79661299
rs79661299
3 1.000 0.040 6 42088268 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1799998
rs1799998
14 0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs1028728
rs1028728
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs1728918
rs1728918
19 0.827 0.160 2 27412596 upstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs189919070
rs189919070
3 1.000 0.040 3 134436825 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs2866611
rs2866611
16 0.851 0.120 20 41322165 upstream gene variant A/T snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs2980853
rs2980853
16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs3212247
rs3212247
2 0.925 0.040 14 24340589 upstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs4803750
rs4803750
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs4819554
rs4819554
10 0.776 0.320 22 17084145 upstream gene variant G/A snv 0.84 0.010 1.000 1 2016 2016
dbSNP: rs499818
rs499818
4 0.851 0.080 6 13332235 upstream gene variant G/A snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs61945053
rs61945053
3 1.000 0.040 13 27021678 upstream gene variant G/A snv 2.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs8179090
rs8179090
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs8193037
rs8193037
12 0.752 0.320 6 52186311 upstream gene variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9943582
rs9943582
8 0.807 0.120 11 57237593 upstream gene variant T/C snv 0.63 0.010 1.000 1 2015 2015
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 2018 2018
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2018 2019
dbSNP: rs10932374
rs10932374
2 0.925 0.040 2 211379678 3 prime UTR variant G/A snv 0.23 0.010 1.000 1 2016 2016