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: rs12137855
rs12137855
3 0.882 0.040 1 219275036 downstream gene variant C/T snv 0.19 0.020 1.000 2 2014 2019
dbSNP: rs1263173
rs1263173
4 0.925 0.080 11 116810292 downstream gene variant G/A snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs16996148
rs16996148
8 0.882 0.120 19 19547663 downstream gene variant G/T snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs222054
rs222054
1 1.000 0.040 4 71738582 downstream gene variant C/G snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs499765
rs499765
2 0.925 0.160 19 48763133 downstream gene variant C/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs6499186
rs6499186
1 1.000 0.040 16 68626662 downstream gene variant C/T snv 0.84 0.700 1.000 1 2019 2019
dbSNP: rs2854116
rs2854116
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.060 1.000 6 2010 2018
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.060 1.000 6 2010 2016
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.040 1.000 4 2015 2020
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.020 1.000 2 2018 2019
dbSNP: rs343064
rs343064
2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.810 1.000 2 2010 2015
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 0.500 2 2012 2012
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs10750097
rs10750097
6 1.000 0.040 11 116793324 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs17120035
rs17120035
1 1.000 0.040 11 116793135 upstream gene variant C/T snv 6.4E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs56225452
rs56225452
5 0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs5748926
rs5748926
1 1.000 0.040 22 17168884 upstream gene variant T/C snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs626283
rs626283
7 0.827 0.160 19 54173307 upstream gene variant C/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 < 0.001 1 2018 2018
dbSNP: rs698718
rs698718
1 1.000 0.040 16 68526282 upstream gene variant A/C;G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs9273349
rs9273349
6 0.827 0.200 6 32658092 upstream gene variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11868035
rs11868035
14 0.763 0.200 17 17811787 splice region variant G/A snv 0.45 0.33 0.010 1.000 1 2013 2013