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: rs28935490
rs28935490
3 1.000 0.160 X 101398432 missense variant C/A;T snv 3.0E-03; 5.4E-06 0.010 1.000 1 2009 2009
dbSNP: rs2968857
rs2968857
2 1.000 0.080 7 150965242 intron variant C/T snv 0.70 0.010 1.000 1 2009 2009
dbSNP: rs3211892
rs3211892
2 1.000 0.080 7 80661053 intron variant A/G snv 0.97 0.92 0.010 1.000 1 2017 2017
dbSNP: rs373721390
rs373721390
1 1 156114996 synonymous variant C/T snv 2.2E-05 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs376970496
rs376970496
1 15 69028303 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs3853601
rs3853601
2 1.000 0.080 6 31531826 intron variant C/G snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs397515126
rs397515126
1 16 2084306 frameshift variant -/TCTCCTCG delins 0.010 1.000 1 2019 2019
dbSNP: rs41310765
rs41310765
5 0.882 0.120 3 38575424 missense variant G/A snv 1.4E-04 7.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs532019808
rs532019808
8 0.827 0.120 11 89451807 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs58034145
rs58034145
10 0.827 0.160 1 156134830 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs59270054
rs59270054
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2003 2003
dbSNP: rs72546668
rs72546668
8 0.807 0.200 3 8745644 missense variant C/A;T snv 4.0E-06; 2.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs7493
rs7493
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2010 2010
dbSNP: rs763802417
rs763802417
5 0.882 0.040 X 100862805 missense variant G/A snv 5.9E-06 0.010 1.000 1 2016 2016
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs9818870
rs9818870
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2011 2011