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: rs3129269
rs3129269
1 1.000 0.120 6 33129837 downstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7634389
rs7634389
1 1.000 0.120 3 187020633 intron variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs7763262
rs7763262
1 1.000 0.120 6 32457105 downstream gene variant T/C snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs9264942
rs9264942
15 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs9275224
rs9275224
5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs9314614
rs9314614
2 1.000 0.120 8 6840209 intron variant C/G snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.818 11 1997 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 1.000 7 1997 2010
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.030 1.000 3 2003 2014
dbSNP: rs10488764
rs10488764
1 1.000 0.120 11 110460907 intron variant G/A snv 0.18 0.020 1.000 2 2015 2015
dbSNP: rs11264794
rs11264794
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2009 2017
dbSNP: rs1800875
rs1800875
12 0.742 0.360 14 24510132 upstream gene variant C/T snv 0.41 0.020 1.000 2 2011 2011
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2014 2015
dbSNP: rs4833095
rs4833095
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.020 1.000 2 2011 2016
dbSNP: rs5743557
rs5743557
4 0.882 0.160 4 38805206 5 prime UTR variant G/A snv 0.14 0.020 0.500 2 2011 2016
dbSNP: rs10004195
rs10004195
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs1001703993
rs1001703993
3 0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1008898
rs1008898
1 1.000 0.120 7 7233928 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1047763
rs1047763
2 0.925 0.120 7 7243938 3 prime UTR variant G/A snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs10490571
rs10490571
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1055901
rs1055901
1 1.000 0.120 18 63805221 3 prime UTR variant T/C snv 0.61 0.010 < 0.001 1 2016 2016
dbSNP: rs1055902
rs1055902
1 1.000 0.120 18 63805309 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs1056654
rs1056654
2 0.925 0.160 16 82148406 3 prime UTR variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1056675
rs1056675
2 0.925 0.160 16 82148329 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017