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: rs7766029
rs7766029
7 0.851 0.080 6 88137716 downstream gene variant T/C snv 0.51 0.020 1.000 2 2009 2019
dbSNP: rs10510057
rs10510057
3 0.925 0.080 10 119551536 intergenic variant G/C snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs10997875
rs10997875
4 0.882 0.080 10 67920067 downstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1491850
rs1491850
6 0.925 0.080 11 27728178 intron variant T/C snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs1491851
rs1491851
4 0.925 0.080 11 27731216 intron variant T/C;G snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs156243
rs156243
6 0.925 0.080 6 104416939 intergenic variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs1818879
rs1818879
7 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2253206
rs2253206
6 0.851 0.080 2 207527254 intron variant A/G snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs28386840
rs28386840
6 0.827 0.080 16 55652906 upstream gene variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs3093077
rs3093077
9 0.827 0.200 1 159709846 upstream gene variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3916966
rs3916966
4 0.882 0.080 13 105458546 upstream gene variant C/A snv 0.63 0.010 < 0.001 1 2010 2010
dbSNP: rs4305745
rs4305745
4 0.882 0.080 6 132572573 downstream gene variant G/A snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs4416670
rs4416670
7 0.827 0.240 6 43982716 intergenic variant T/C snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs4880213
rs4880213
6 0.827 0.160 9 137136549 upstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs6903874
rs6903874
5 0.851 0.080 6 132575771 downstream gene variant T/C snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs6937506
rs6937506
7 0.807 0.280 6 132578260 intergenic variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs7452939
rs7452939
4 0.882 0.080 6 132572626 downstream gene variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs908867
rs908867
7 0.851 0.160 11 27724217 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2014 2015
dbSNP: rs1202184
rs1202184
7 0.851 0.120 7 87584585 intron variant C/T snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1922242
rs1922242
8 0.827 0.120 7 87544351 intron variant A/T snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs776943620
rs776943620
ACE
7 0.851 0.120 17 63477287 missense variant G/A snv 2.1E-05 0.020 1.000 2 2009 2013
dbSNP: rs143830698
rs143830698
ACE
4 0.882 0.120 17 63488659 missense variant G/A snv 8.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2017 2017