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: rs1371808321
rs1371808321
1 1.000 0.120 1 100724755 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs4522865
rs4522865
4 0.882 0.240 4 101794731 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2293225
rs2293225
2 0.925 0.200 2 102419429 intron variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs61893841
rs61893841
1 1.000 0.120 11 102591595 intron variant G/A snv 7.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 < 0.001 2 2007 2013
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 < 0.001 2 2007 2013
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs111033304
rs111033304
1 1.000 0.120 7 107683334 missense variant A/C;G snv 1.0E-03 0.010 1.000 1 2010 2010
dbSNP: rs111033243
rs111033243
5 0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs7537605
rs7537605
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.710 1.000 1 2015 2015
dbSNP: rs61752607
rs61752607
1 1.000 0.120 4 108165124 missense variant C/A;T snv 8.2E-03 6.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs769814612
rs769814612
1 1.000 0.120 4 108167727 missense variant T/C snv 3.2E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs9514828
rs9514828
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs2893321
rs2893321
3 0.882 0.200 13 108290686 intron variant A/G snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs4000607
rs4000607
2 0.925 0.120 13 108290869 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs653178
rs653178
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs56343172
rs56343172
2 0.925 0.160 3 111868398 intron variant C/T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2010 2018
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.020 1.000 2 2010 2018
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2009 2009
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2018
dbSNP: rs3811046
rs3811046
5 0.851 0.160 2 112913801 missense variant G/A;T snv 4.0E-06; 0.71 0.010 1.000 1 2015 2015
dbSNP: rs3811047
rs3811047
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2015 2015