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: rs1800764
rs1800764
10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2200733
rs2200733
12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs8126696
rs8126696
3 0.882 0.080 21 37358422 intron variant T/C snv 0.64 0.010 1.000 1 2012 2012
dbSNP: rs1394871591
rs1394871591
5 0.827 0.200 9 104903619 missense variant G/C snv 4.8E-06 0.010 1.000 1 2005 2005
dbSNP: rs3764650
rs3764650
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1401663578
rs1401663578
ACE
4 0.882 0.120 17 63483037 missense variant A/G snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2017 2017
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs767425642
rs767425642
ACE
3 0.882 0.120 17 63489010 missense variant G/A;T snv 3.2E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2017 2017
dbSNP: rs3764435
rs3764435
5 0.827 0.120 9 72901960 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.030 1.000 3 2001 2018
dbSNP: rs1233347077
rs1233347077
4 0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 < 0.001 1 2019 2019
dbSNP: rs440446
rs440446
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.010 < 0.001 1 2019 2019
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs748703149
rs748703149
3 0.882 0.080 19 44908729 missense variant G/A;C;T snv 6.3E-06; 6.3E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.020 1.000 2 2004 2017
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.020 1.000 2 2011 2012
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs529782627
rs529782627
APP
3 0.882 0.120 21 26112051 missense variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs533667466
rs533667466
APP
3 0.925 0.080 21 25911912 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs63750151
rs63750151
APP
3 0.882 0.080 21 25891761 missense variant C/G;T snv 0.010 1.000 1 2012 2012