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: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs4149056
rs4149056
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2019 2019
dbSNP: rs538166970
rs538166970
ACE
2 0.925 0.080 17 63496920 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs61747728
rs61747728
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs7222094
rs7222094
3 0.882 0.120 17 45290287 intron variant T/C snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2015 2015
dbSNP: rs74315289
rs74315289
5 0.827 0.280 1 54999325 missense variant G/A snv 1.0E-04 1.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs7456421
rs7456421
4 0.882 0.120 7 139715976 synonymous variant G/C snv 0.27 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs7493
rs7493
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2006 2006
dbSNP: rs7582694
rs7582694
9 0.763 0.400 2 191105394 intron variant C/G snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs777919630
rs777919630
CBS
40 0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs867394500
rs867394500
ACE
4 0.851 0.080 17 63477301 missense variant G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.020 1.000 2 2000 2015
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2003 2015
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 1.000 2 2003 2009
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2001 2013