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: rs1057519729
rs1057519729
6 0.827 0.080 15 66435113 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs778199483
rs778199483
2 1.000 0.080 7 55181313 missense variant C/G;T snv 4.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.060 1.000 6 2014 2020
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs11686903
rs11686903
1 2 172581558 intron variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs706716
rs706716
4 0.882 0.080 5 68252614 intron variant C/T snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2019 2019
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 2015 2015
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs267598140
rs267598140
3 0.925 0.080 1 162778600 missense variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs3730050
rs3730050
1 19 40265075 intron variant T/C snv 0.73 0.010 1.000 1 2017 2017
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2019 2019