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: rs121434500
rs121434500
5 0.851 0.120 20 33410203 missense variant G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs199473260
rs199473260
2 0.925 0.120 3 38555720 missense variant T/C snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2018 2018
dbSNP: rs2070356
rs2070356
1 1.000 0.080 21 34448789 3 prime UTR variant G/A snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2070357
rs2070357
1 1.000 0.080 21 34449121 3 prime UTR variant T/C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs220733
rs220733
3 1.000 0.080 6 159897771 intron variant A/C;G snv 0.99 0.010 < 0.001 1 2011 2011
dbSNP: rs2696056
rs2696056
1 1.000 0.080 4 184634082 intron variant C/A;G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2968857
rs2968857
2 1.000 0.080 7 150965242 intron variant C/T snv 0.70 0.010 < 0.001 1 2009 2009
dbSNP: rs3807375
rs3807375
2 1.000 0.080 7 150970122 intron variant C/A;T snv 0.010 < 0.001 1 2009 2009
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 < 0.001 1 2016 2016
dbSNP: rs397516357
rs397516357
5 0.851 0.120 19 55151910 missense variant C/T snv 7.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs4647610
rs4647610
3 0.882 0.160 4 184646777 intron variant C/T snv 0.16 0.010 < 0.001 1 2015 2015
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.020 0.500 2 2013 2014
dbSNP: rs6584555
rs6584555
1 1.000 0.080 10 103539854 intron variant T/C snv 0.27 0.740 0.800 5 2016 2019
dbSNP: rs7193343
rs7193343
3 0.882 0.120 16 72995261 intron variant T/A;C snv 0.870 0.857 7 2009 2019
dbSNP: rs3807989
rs3807989
2 1.000 0.080 7 116546187 intron variant A/G snv 0.53 0.870 0.875 8 2012 2019
dbSNP: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.900 0.929 14 2009 2019
dbSNP: rs10033464
rs10033464
8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.900 0.933 15 2007 2019
dbSNP: rs2200733
rs2200733
12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.900 0.971 35 2007 2019
dbSNP: rs1805127
rs1805127
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.100 1.000 11 2006 2019
dbSNP: rs13376333
rs13376333
2 0.925 0.080 1 154841877 intron variant C/T snv 0.28 0.870 1.000 7 2010 2015
dbSNP: rs6817105
rs6817105
3 0.882 0.080 4 110784612 intergenic variant T/C snv 0.19 0.840 1.000 6 2012 2018
dbSNP: rs120074192
rs120074192
10 0.763 0.120 11 2527959 missense variant A/G snv 0.050 1.000 5 2003 2018
dbSNP: rs6843082
rs6843082
3 0.925 0.120 4 110796911 non coding transcript exon variant G/A snv 0.71 0.810 1.000 5 2010 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.050 1.000 5 2004 2015