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: rs1800764
rs1800764
10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.020 1.000 2 2005 2009
dbSNP: rs12449782
rs12449782
3 0.925 0.200 17 63498888 intron variant G/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs2808630
rs2808630
13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2011 2011
dbSNP: rs2856717
rs2856717
2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs3115573
rs3115573
2 1.000 0.120 6 32251066 upstream gene variant A/G snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs6610650
rs6610650
2 1.000 0.040 X 37777261 intron variant G/A snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs9275224
rs9275224
5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2011 2011
dbSNP: rs9275424
rs9275424
1 6 32702799 downstream gene variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs9275596
rs9275596
7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.800 1.000 1 2011 2011
dbSNP: rs9974610
rs9974610
3 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs2268388
rs2268388
6 0.851 0.200 12 109205840 intron variant G/A snv 0.14 0.040 1.000 4 2013 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.080 1.000 8 1999 2014
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2009 2009
dbSNP: rs4293
rs4293
ACE
1 17 63478305 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs4309
rs4309
ACE
3 0.925 0.120 17 63482562 synonymous variant C/T snv 0.46 0.36 0.010 1.000 1 2010 2010
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs9896208
rs9896208
ACE
1 17 63498748 intron variant T/C snv 0.57 0.010 1.000 1 2005 2005
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2015 2015
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 2016 2016
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 1.000 15 1996 2014
dbSNP: rs11122576
rs11122576
AGT
2 1.000 0.080 1 230710933 intron variant T/C snv 8.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs11568054
rs11568054
AGT
1 1 230709809 intron variant G/A snv 3.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs1926723
rs1926723
AGT
2 1.000 0.080 1 230704350 intron variant T/A;C;G snv 1.2E-05; 0.11; 2.0E-05 0.010 1.000 1 2013 2013