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: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2007 2012
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2007 2012
dbSNP: rs121918079
rs121918079
TTR
10 0.790 0.280 18 31595143 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs17880135
rs17880135
1 21 31669690 upstream gene variant T/G snv 3.9E-02 0.020 1.000 2 2008 2011
dbSNP: rs237025
rs237025
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.020 1.000 2 2008 2016
dbSNP: rs6495446
rs6495446
6 0.851 0.200 15 79862640 intron variant C/T snv 0.31 0.020 1.000 2 2008 2012
dbSNP: rs13293564
rs13293564
1 9 35166766 intron variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs17881180
rs17881180
1 21 31659974 non coding transcript exon variant C/T snv 3.8E-02 0.010 1.000 1 2008 2008
dbSNP: rs204732
rs204732
1 21 31720530 intron variant G/A snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs2281999
rs2281999
3 0.925 0.160 9 35381507 intron variant C/T snv 0.35 0.38 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370
37 0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21 0.010 1.000 1 2008 2008
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: rs9974610
rs9974610
3 1.000 0.080 21 31646056 intergenic variant A/G snv 0.13 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2009 2012
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2009 2014
dbSNP: rs12449782
rs12449782
3 0.925 0.200 17 63498888 intron variant G/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs1332629192
rs1332629192
ALB
7 0.851 0.200 4 73404374 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2009 2009
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2009 2009
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2010 2010
dbSNP: rs11739136
rs11739136
10 0.827 0.200 5 170383792 missense variant C/T snv 9.9E-02 8.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs1800783
rs1800783
7 0.827 0.280 7 150992309 intron variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2228226
rs2228226
6 0.851 0.160 12 57472038 missense variant G/C snv 0.60 0.68 0.010 1.000 1 2010 2010