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: rs1014290
rs1014290
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.010 1.000 1 2010 2010
dbSNP: rs733175
rs733175
5 0.851 0.240 4 10048517 intron variant C/T snv 0.77 0.010 1.000 1 2010 2010
dbSNP: rs12313273
rs12313273
4 0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs7135617
rs7135617
5 0.827 0.240 12 121631099 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs6486795
rs6486795
2 0.925 0.120 12 121638011 intron variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs7652589
rs7652589
13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.060 1.000 6 2011 2019
dbSNP: rs6776158
rs6776158
2 0.925 0.120 3 122183002 upstream gene variant G/A snv 0.61 0.030 1.000 3 2013 2019
dbSNP: rs1501899
rs1501899
8 0.790 0.240 3 122188481 intron variant A/G snv 0.62 0.040 1.000 4 2011 2019
dbSNP: rs17251221
rs17251221
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs1042636
rs1042636
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.060 1.000 6 2006 2019
dbSNP: rs756322971
rs756322971
9 0.763 0.240 3 122284955 missense variant C/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1801726
rs1801726
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2007 2007
dbSNP: rs307248
rs307248
PTH
2 0.925 0.120 11 13491818 downstream gene variant A/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs307247
rs307247
PTH
2 0.925 0.120 11 13491931 downstream gene variant G/A snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1373464667
rs1373464667
2 0.925 0.120 9 137232889 missense variant C/G;T snv 4.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs199690076
rs199690076
3 0.882 0.240 9 137233223 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs7456421
rs7456421
4 0.882 0.120 7 139715976 synonymous variant G/C snv 0.27 0.37 0.010 1.000 1 2018 2018
dbSNP: rs6464214
rs6464214
2 0.925 0.120 7 139754366 intron variant A/G snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs757494578
rs757494578
2 0.925 0.120 7 142912681 missense variant A/C snv 0.020 1.000 2 2015 2017
dbSNP: rs4236480
rs4236480
3 0.882 0.120 7 142929454 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2098435
rs2098435
2 0.925 0.120 12 14851655 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs4236
rs4236
4 0.925 0.120 12 14882147 missense variant T/A;C snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs2430692
rs2430692
2 0.925 0.120 12 14912889 downstream gene variant A/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2019 2019