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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs1800014
rs1800014
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.010 1.000 1 2000 2000
dbSNP: rs398122370
rs398122370
4 0.925 0.160 20 4699851 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2001 2001
dbSNP: rs121918413
rs121918413
3 1.000 0.120 5 151851470 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs1467252662
rs1467252662
2 5 151851530 missense variant G/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs80358261
rs80358261
3 0.925 0.160 14 74486404 missense variant C/T snv 1.7E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs74315322
rs74315322
3 1.000 0.040 1 154275165 stop gained C/T snv 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs1064039
rs1064039
6 0.827 0.200 20 23637790 missense variant C/G;T snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs1457713736
rs1457713736
1 8 11850867 stop gained C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913223
rs121913223
2 1.000 0.040 5 80633904 missense variant T/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs749191312
rs749191312
2 1.000 0.080 20 18497075 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs771884087
rs771884087
2 1.000 0.080 20 45253726 synonymous variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1805032
rs1805032
3 1.000 0.040 2 151839238 stop gained G/A snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs587777162
rs587777162
5 0.925 0.040 20 63495972 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2016 2016
dbSNP: rs28939711
rs28939711
5 0.851 0.120 10 99724057 missense variant G/A snv 3.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs397514662
rs397514662
4 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs114925667
rs114925667
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2017 2017
dbSNP: rs121434444
rs121434444
4 0.882 0.160 12 57569648 missense variant C/T snv 2.8E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121908345
rs121908345
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1364050643
rs1364050643
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018