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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.880 25 2006 2018
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.100 1.000 11 1999 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 0.600 5 2002 2014
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 1.000 3 2014 2019
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.030 0.333 3 2007 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 < 0.001 2 2007 2008
dbSNP: rs2242446
rs2242446
9 0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv 0.020 1.000 2 2008 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2017
dbSNP: rs11155372
rs11155372
3 0.925 0.040 6 144698602 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs11829119
rs11829119
4 0.851 0.040 12 19040597 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs11990063
rs11990063
3 0.925 0.040 8 10307685 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12649507
rs12649507
4 0.851 0.080 4 55514317 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1352618632
rs1352618632
2 0.925 0.040 13 33112802 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs144733372
rs144733372
4 0.882 0.120 17 45486856 intron variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1541187
rs1541187
3 0.882 0.040 1 147579693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs17154917
rs17154917
4 0.851 0.040 7 81207393 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs17211233
rs17211233
4 0.882 0.040 5 81072944 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs195478
rs195478
2 0.925 0.040 6 115851928 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs201203751
rs201203751
3 0.925 0.040 5 39203496 intron variant TT/-;T;TTT delins 0.700 1.000 1 2016 2016