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: rs17009726
rs17009726
1 1.000 0.080 2 118967884 intron variant A/G snv 1.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs17795618
rs17795618
1 1.000 0.080 2 118973892 intron variant T/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs2011839
rs2011839
1 1.000 0.080 2 118985008 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2278589
rs2278589
1 1.000 0.080 2 118971300 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs4252019
rs4252019
3 0.882 0.160 2 113131542 intron variant C/T snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs6751745
rs6751745
2 0.925 0.080 2 118983428 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs722555
rs722555
1 1.000 0.080 2 230168800 non coding transcript exon variant C/T snv 0.57 0.010 < 0.001 1 2017 2017
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs9061
rs9061
2 0.925 0.080 2 230212395 missense variant C/T snv 0.11 9.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs187084
rs187084
35 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.030 1.000 3 2014 2018
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.020 1.000 2 2015 2019
dbSNP: rs1799864
rs1799864
66 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2009 2009
dbSNP: rs2239751
rs2239751
3 0.882 0.120 3 50610457 5 prime UTR variant T/G snv 9.6E-02 7.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs352140
rs352140
41 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2018 2018
dbSNP: rs352142
rs352142
2 0.925 0.120 3 52232366 intron variant A/C snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs352143
rs352143
2 0.925 0.120 3 52230891 synonymous variant T/C snv 0.17 0.23 0.010 1.000 1 2015 2015
dbSNP: rs3774275
rs3774275
1 1.000 0.080 3 187247480 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs414171
rs414171
6 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4988453
rs4988453
4 0.851 0.200 3 38137763 upstream gene variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs5743836
rs5743836
31 0.658 0.440 3 52226766 intron variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs6768300
rs6768300
2 0.925 0.120 3 50611939 5 prime UTR variant C/G snv 0.85 0.010 1.000 1 2017 2017
dbSNP: rs6853
rs6853
2 0.925 0.160 3 38142879 3 prime UTR variant A/G snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs5743708
rs5743708
97 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.080 1.000 8 2010 2019
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.040 0.750 4 2013 2019
dbSNP: rs5743618
rs5743618
20 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.040 1.000 4 2010 2016