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: rs12826786
rs12826786
26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 < 0.001 1 2017 2017
dbSNP: rs132793
rs132793
7 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs2423279
rs2423279
10 0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs29232
rs29232
4 0.925 0.240 6 29643654 intergenic variant C/T snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs4444235
rs4444235
23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs7717457
rs7717457
1 5 40887679 intergenic variant A/G snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs944289
rs944289
16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2013 2014
dbSNP: rs765189442
rs765189442
4 0.925 0.080 2 168995422 missense variant T/C snv 8.1E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs17822931
rs17822931
7 0.827 0.080 16 48224287 missense variant C/G;T snv 4.0E-06; 0.22 0.13 0.020 0.500 2 2011 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs12774070
rs12774070
4 0.925 0.120 10 70753879 missense variant C/A;G snv 0.23 0.19 0.010 1.000 1 2016 2016
dbSNP: rs61573157
rs61573157
6 0.882 0.160 10 70760503 missense variant C/T snv 8.6E-02 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2006 2019
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.020 1.000 2 2015 2015
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 < 0.001 1 2008 2008
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.040 1.000 4 2008 2016
dbSNP: rs201745983
rs201745983
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2006 2006
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2006 2006
dbSNP: rs281864719
rs281864719
ALK
14 0.763 0.240 2 29220831 missense variant A/C;G;T snv 0.020 1.000 2 2014 2019
dbSNP: rs863225281
rs863225281
ALK
12 0.776 0.200 2 29220829 missense variant G/C;T snv 0.020 1.000 2 2014 2019
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.010 1.000 1 2014 2014