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 0.730 0.667 3 2009 2017
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.710 1.000 1 2019 2019
dbSNP: rs1025128
rs1025128
1 1.000 0.080 2 59948340 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs12104955
rs12104955
1 1.000 0.080 2 33188236 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs121918088
rs121918088
TTR
4 0.851 0.120 18 31598631 missense variant T/C snv 0.700 1.000 1 1994 1994
dbSNP: rs12406439
rs12406439
1 1.000 0.080 1 102774795 intron variant C/T snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs1863190
rs1863190
2 1.000 0.080 2 217263429 non coding transcript exon variant A/T snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs1866745
rs1866745
1 1.000 0.080 15 66742474 intron variant G/A snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs3791679
rs3791679
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs3828889
rs3828889
1 1.000 0.080 6 31472874 intron variant T/C snv 0.79 0.700 1.000 1 2019 2019
dbSNP: rs4678145
rs4678145
2 0.925 0.120 3 124731234 intron variant G/A;C snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs55841377
rs55841377
1 1.000 0.080 7 44105579 intron variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs62422907
rs62422907
1 1.000 0.080 6 85006237 regulatory region variant G/A snv 8.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs62621197
rs62621197
4 1.000 0.080 19 8605262 missense variant C/A;T snv 4.1E-06; 3.1E-02 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs6843953
rs6843953
1 1.000 0.080 4 13220123 intergenic variant C/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs6977081
rs6977081
1 1.000 0.080 7 150845427 intron variant G/T snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs72725608
rs72725608
1 1.000 0.080 14 75779563 intron variant T/C snv 3.5E-02 2.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs72755233
rs72755233
5 1.000 0.080 15 100152748 missense variant G/A;T snv 7.1E-02; 3.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs847139
rs847139
1 1.000 0.080 2 176035543 intergenic variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs121918091
rs121918091
TTR
3 0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2020 2020
dbSNP: rs1126499
rs1126499
BGN
1 1.000 0.080 X 153506051 missense variant C/A;T snv 0.43 0.37 0.010 1.000 1 2014 2014
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs12722
rs12722
6 0.882 0.120 9 134842570 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2015 2015