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: 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: rs1044498
rs1044498
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1057156731
rs1057156731
3 0.925 0.120 1 156137730 missense variant T/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1057613
rs1057613
1 1.000 0.040 4 99583828 3 prime UTR variant G/A snv 0.60 0.010 1.000 1 2014 2014
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: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs10883437
rs10883437
3 1.000 0.040 10 100035604 regulatory region variant T/A;G snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs11166927
rs11166927
1 1.000 0.040 8 139784177 intron variant T/C snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs11235972
rs11235972
1 1.000 0.040 11 74006029 intron variant G/A snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs1131580
rs1131580
4 0.882 0.160 3 172505830 3 prime UTR variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs11599176
rs11599176
2 0.925 0.080 10 67894017 intron variant A/G snv 0.11 0.010 1.000 1 2018 2018
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
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs12152703
rs12152703
KLB
2 0.925 0.120 4 39420199 intron variant G/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs12565406
rs12565406
1 1.000 0.040 1 209687741 intron variant G/A;T snv 0.010 1.000 1 2016 2016
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: rs1275561861
rs1275561861
23 0.672 0.360 6 29944350 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1292932521
rs1292932521
1 1.000 0.040 22 18517476 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs12970134
rs12970134
13 0.790 0.280 18 60217517 intergenic variant G/A snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs12979860
rs12979860
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
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: rs13306741
rs13306741
1 1.000 0.040 17 17811708 3 prime UTR variant C/A;T snv 4.3E-03; 7.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs13412852
rs13412852
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs13428113
rs13428113
1 1.000 0.040 2 118089309 intron variant T/C snv 0.51 0.010 1.000 1 2014 2014