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: rs200640958
rs200640958
1 1.000 0.080 11 101471303 synonymous variant G/A;C snv 8.0E-06; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs2285450
rs2285450
1 1.000 0.080 19 35851365 synonymous variant G/A snv 2.2E-02 4.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs4821481
rs4821481
1 1.000 0.080 22 36299896 intron variant C/T snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs754919065
rs754919065
1 1.000 0.080 11 101504767 missense variant G/A snv 6.1E-05; 4.1E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs118203979
rs118203979
2 0.925 0.080 1 42740005 missense variant C/T snv 9.0E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs3024912
rs3024912
2 0.925 0.120 2 191028361 intron variant A/C snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs367825197
rs367825197
2 0.925 0.080 7 131509412 stop gained G/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs437168
rs437168
2 1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs538166970
rs538166970
ACE
2 0.925 0.080 17 63496920 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2032487
rs2032487
3 0.882 0.080 22 36299382 intron variant C/T snv 0.78 0.020 1.000 2 2009 2012
dbSNP: rs121908144
rs121908144
3 0.882 0.240 1 54999221 missense variant T/C snv 2.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs3759126
rs3759126
3 0.882 0.080 12 49950079 upstream gene variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs4281481
rs4281481
3 0.882 0.080 11 22859013 intron variant C/G snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs760336723
rs760336723
3 0.882 0.240 7 131506292 missense variant G/A snv 2.8E-05 5.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs104886303
rs104886303
4 0.851 0.200 X 108695409 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs151340624
rs151340624
4 0.851 0.120 X 50090846 stop gained C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs867394500
rs867394500
ACE
4 0.851 0.080 17 63477301 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs151340626
rs151340626
5 0.827 0.200 X 50085987 missense variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs3752462
rs3752462
7 0.827 0.160 22 36314138 splice region variant T/C snv 0.57 0.53 0.010 1.000 1 2012 2012
dbSNP: rs734553
rs734553
7 0.851 0.240 4 9921380 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs188942711
rs188942711
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2016 2016
dbSNP: rs4821480
rs4821480
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs11739136
rs11739136
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2010 2010