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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.974 39 1998 2020
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.895 19 2001 2018
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.100 0.909 11 2002 2017
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.840 1.000 10 2011 2018
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.090 0.889 9 1997 2014
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.090 0.778 9 2005 2013
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.850 1.000 9 2007 2018
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.080 0.875 8 1997 2007
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.080 0.625 8 2003 2017
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.070 1.000 7 2012 2018
dbSNP: rs17465637
rs17465637
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.840 1.000 7 2007 2013
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.070 1.000 7 1998 2019
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.750 1.000 6 2007 2018
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.060 1.000 6 2010 2018
dbSNP: rs11556924
rs11556924
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.810 1.000 5 2011 2017
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.050 1.000 5 2002 2013
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.050 1.000 5 2000 2013
dbSNP: rs2943634
rs2943634
15 0.763 0.200 2 226203364 intergenic variant A/C;G snv 0.830 1.000 5 2007 2012
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.050 1.000 5 2016 2018
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.040 1.000 4 2001 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2011 2014
dbSNP: rs11206510
rs11206510
16 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 0.820 1.000 4 2011 2013
dbSNP: rs12190287
rs12190287
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.820 1.000 4 2011 2017
dbSNP: rs1805017
rs1805017
5 0.851 0.240 6 46716485 missense variant C/A;T snv 4.0E-06; 0.31 0.040 1.000 4 2010 2018
dbSNP: rs2228671
rs2228671
14 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.730 1.000 4 2010 2020