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: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs767649
rs767649
18 0.695 0.480 21 25572410 intron variant T/A snv 7.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs16999051
rs16999051
3 0.882 0.280 20 17380837 intron variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs6060566
rs6060566
2 0.925 0.160 20 35700304 intron variant T/C snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 0.500 6 2006 2018
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs2115386
rs2115386
2 0.925 0.160 19 7196554 intron variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs713041
rs713041
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2019 2019
dbSNP: rs11662496
rs11662496
1 1.000 0.120 18 43695432 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2000813
rs2000813
9 0.763 0.200 18 49567494 missense variant C/A;T snv 4.0E-06; 0.27; 4.0E-06 0.23 0.010 1.000 1 2014 2014
dbSNP: rs599019
rs599019
2 0.925 0.160 18 294495 intergenic variant C/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs770572030
rs770572030
5 0.827 0.160 18 49581427 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs12150053
rs12150053
1 1.000 0.120 17 1761175 upstream gene variant T/A;C snv 0.020 0.500 2 2007 2009
dbSNP: rs12948385
rs12948385
1 1.000 0.120 17 1761607 upstream gene variant G/A snv 0.26 0.020 0.500 2 2007 2009
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1136287
rs1136287
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.010 1.000 1 2007 2007
dbSNP: rs1241356540
rs1241356540
ACE
5 0.851 0.160 17 63497137 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1373054855
rs1373054855
1 1.000 0.120 17 64370017 missense variant A/G snv 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs281865545
rs281865545
18 0.695 0.360 17 64377836 missense variant C/G;T snv 0.010 < 0.001 1 2002 2002
dbSNP: rs9896052
rs9896052
3 0.882 0.160 17 75422781 intergenic variant A/C snv 0.50 0.700 1.000 1 2015 2015
dbSNP: rs9913583
rs9913583
2 0.925 0.120 17 1762036 5 prime UTR variant C/A snv 6.6E-02 0.010 1.000 1 2007 2007
dbSNP: rs17684886
rs17684886
2 0.925 0.160 16 75052977 intron variant A/T snv 0.12 0.010 1.000 1 2015 2015