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: rs10189761
rs10189761
4 0.882 0.120 2 646364 intergenic variant T/A snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs12567209
rs12567209
6 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs28714259
rs28714259
5 0.882 0.120 15 23463380 intergenic variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs499818
rs499818
4 0.851 0.080 6 13332235 upstream gene variant G/A snv 0.21 0.010 1.000 1 2007 2007
dbSNP: rs9351814
rs9351814
4 0.882 0.040 6 71484004 intergenic variant A/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs9885413
rs9885413
2 0.925 0.040 5 110840429 intergenic variant G/T snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs8187710
rs8187710
6 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1344172059
rs1344172059
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs141322087
rs141322087
13 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs1815739
rs1815739
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs452159
rs452159
ADA
2 1.000 0.040 20 44642461 intron variant G/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs4822489
rs4822489
2 0.925 0.200 22 24437792 intron variant T/G snv 0.48 0.010 1.000 1 2015 2015
dbSNP: rs1544223
rs1544223
1 1.000 0.040 1 111503935 intron variant C/T snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.100 0.929 14 2003 2019
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.060 1.000 6 2000 2019
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.040 1.000 4 2007 2018
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.040 0.750 4 2009 2018
dbSNP: rs1800888
rs1800888
23 0.695 0.400 5 148827322 missense variant C/T snv 9.1E-03 9.1E-03 0.040 1.000 4 2001 2010
dbSNP: rs1800624
rs1800624
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.060 1.000 6 1999 2014
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2007 2007
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2018 2019