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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.895 19 1998 2017
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.100 0.947 19 1997 2017
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.100 0.846 13 1994 2014
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.040 1.000 4 1999 2007
dbSNP: rs1024323
rs1024323
4 0.882 0.160 4 3004316 missense variant C/A;G;T snv 0.36 0.030 1.000 3 2006 2016
dbSNP: rs12140311
rs12140311
3 1.000 0.040 1 16052230 missense variant A/C;T snv 8.0E-06; 9.6E-02 0.030 0.667 3 2004 2011
dbSNP: rs1801058
rs1801058
4 0.882 0.120 4 3037423 missense variant T/C;G snv 0.62 0.030 1.000 3 2006 2016
dbSNP: rs879922
rs879922
4 0.882 0.160 X 15572684 intron variant C/G snv 0.030 1.000 3 2018 2019
dbSNP: rs1012841819
rs1012841819
4 0.882 0.160 2 96115728 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2010 2011
dbSNP: rs12720742
rs12720742
ACE
1 1.000 0.040 17 63496923 missense variant C/G;T snv 2.4E-05; 3.2E-04 0.020 1.000 2 1998 2004
dbSNP: rs1462059537
rs1462059537
4 0.882 0.160 4 147535944 missense variant C/T snv 8.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2013 2017
dbSNP: rs2254524
rs2254524
2 1.000 0.040 21 46194555 missense variant A/C;T snv 0.66; 1.6E-05 0.020 1.000 2 2016 2019
dbSNP: rs2960306
rs2960306
1 1.000 0.040 4 2988772 missense variant G/A;T snv 4.8E-05; 0.32 0.020 1.000 2 2006 2016
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2002 2006
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2005 2014
dbSNP: rs4240157
rs4240157
4 0.925 0.080 X 15568841 intron variant C/T snv 0.020 1.000 2 2018 2019
dbSNP: rs4244285
rs4244285
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.020 1.000 2 2012 2017
dbSNP: rs4830542
rs4830542
3 0.925 0.080 X 15558483 downstream gene variant C/G;T snv 0.020 1.000 2 2018 2019
dbSNP: rs5194
rs5194
1 1.000 0.040 X 116173577 3 prime UTR variant A/G snv 0.020 0.500 2 2006 2014
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.020 1.000 2 2017 2019
dbSNP: rs5351
rs5351
7 0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57 0.020 1.000 2 2007 2017
dbSNP: rs7119375
rs7119375
2 1.000 0.040 11 57238490 upstream gene variant A/G;T snv 0.020 1.000 2 2010 2016
dbSNP: rs758801521
rs758801521
4 0.882 0.160 8 26770618 missense variant A/G snv 4.0E-06 0.020 1.000 2 2010 2016