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: rs324011
rs324011
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.020 1.000 2 2014 2018
dbSNP: rs324015
rs324015
5 0.827 0.120 12 57096317 3 prime UTR variant T/C snv 0.76 0.020 1.000 2 2014 2014
dbSNP: rs10494132
rs10494132
4 0.851 0.080 1 111289601 upstream gene variant T/C snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs1207011218
rs1207011218
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1558641
rs1558641
3 0.925 0.080 2 102149405 intron variant G/A snv 0.13 0.010 1.000 1 2015 2015
dbSNP: rs1861494
rs1861494
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs1999071
rs1999071
4 0.851 0.080 14 22659998 regulatory region variant T/C snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs2233407
rs2233407
3 0.882 0.080 14 35405317 upstream gene variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2282290
rs2282290
2 0.925 0.080 1 111320829 intron variant A/G snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs2664538
rs2664538
6 0.827 0.200 20 46011586 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs2715555
rs2715555
2 0.925 0.080 17 40388372 downstream gene variant G/A snv 9.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs2872507
rs2872507
12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3217304
rs3217304
2 0.925 0.080 2 98544046 intron variant ACACAC/-;AC;ACAC;ACACACAC;ACACACACAC;ACACACACACAC delins 0.25 0.010 1.000 1 2008 2008
dbSNP: rs3776944
rs3776944
2 0.925 0.080 5 179793009 upstream gene variant G/A snv 8.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs3806448
rs3806448
2 0.925 0.080 1 111289583 upstream gene variant G/A snv 0.45 0.010 1.000 1 2008 2008
dbSNP: rs4065275
rs4065275
6 0.807 0.160 17 39924612 intron variant A/G;T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs4559
rs4559
3 0.882 0.080 12 57095865 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs4794820
rs4794820
9 0.790 0.160 17 39933091 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4950928
rs4950928
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs6871536
rs6871536
5 0.827 0.160 5 132634182 intron variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs71802646
rs71802646
3 0.882 0.080 12 57111290 5 prime UTR variant ACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACAC;ACACACACACACACACACACACACAC delins 0.32 0.010 1.000 1 2014 2014
dbSNP: rs73985228
rs73985228
3 0.882 0.080 17 39922412 3 prime UTR variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7927894
rs7927894
12 0.742 0.320 11 76590272 upstream gene variant C/T snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs900333744
rs900333744
2 0.925 0.080 9 21440695 missense variant A/G snv 0.010 1.000 1 2001 2001