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: rs2854116
rs2854116
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.060 1.000 6 2010 2018
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.060 1.000 6 2010 2016
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.820 1.000 2 2010 2014
dbSNP: rs343064
rs343064
2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.810 1.000 2 2010 2015
dbSNP: rs1227756
rs1227756
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2010 2010
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs2710833
rs2710833
2 0.925 0.080 4 168488807 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs56225452
rs56225452
5 0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs643608
rs643608
2 0.925 0.080 21 43348682 intergenic variant C/T snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs6487679
rs6487679
2 0.925 0.080 12 9218736 intergenic variant C/T snv 0.80 0.700 1.000 1 2010 2010
dbSNP: rs6591182
rs6591182
2 0.925 0.080 11 65582285 missense variant T/G snv 0.47 0.45 0.700 1.000 1 2010 2010
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs887304
rs887304
2 0.925 0.080 12 3648382 3 prime UTR variant T/C snv 0.77 0.700 1.000 1 2010 2010
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.790 1.000 10 2011 2019
dbSNP: rs2228603
rs2228603
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.720 0.667 3 2011 2016
dbSNP: rs2228314
rs2228314
8 0.790 0.360 22 41880738 missense variant G/C snv 0.34 0.38 0.020 1.000 2 2011 2014
dbSNP: rs4240624
rs4240624
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 0.710 1.000 2 2011 2014
dbSNP: rs17883901
rs17883901
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs3816873
rs3816873
9 0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26 0.010 1.000 1 2011 2011
dbSNP: rs61733139
rs61733139
1 1.000 0.040 4 99583409 missense variant G/C snv 4.0E-02 4.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs9817981
rs9817981
1 1.000 0.040 3 189845741 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs139051
rs139051
1 1.000 0.040 22 43928796 intron variant A/G snv 0.56 0.59 0.030 1.000 3 2012 2018
dbSNP: rs2143571
rs2143571
5 0.827 0.080 22 43995806 intron variant G/A snv 0.25 0.800 1.000 3 2012 2018
dbSNP: rs2073080
rs2073080
2 0.925 0.040 22 43998522 intron variant C/T snv 0.20 0.810 1.000 2 2012 2018