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: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.020 1.000 2 2008 2014
dbSNP: rs104893856
rs104893856
6 0.827 0.080 4 41746162 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121909717
rs121909717
3 0.925 0.120 17 44908075 missense variant G/A;C;T snv 1.2E-04 0.010 1.000 1 2003 2003
dbSNP: rs121918126
rs121918126
5 0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs63750756
rs63750756
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs73969684
rs73969684
2 1.000 0.040 2 166305834 missense variant C/G;T snv 1.2E-05; 2.8E-03 0.010 1.000 1 2012 2012
dbSNP: rs758440592
rs758440592
4 0.882 0.120 12 53314832 missense variant C/T snv 2.0E-05 7.0E-06 0.010 1.000 1 2019 2019