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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 0.500 2 2007 2008
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 0.500 2 2007 2008
dbSNP: rs1059703
rs1059703
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs10986769
rs10986769
2 0.925 0.120 9 125460061 intron variant A/G;T snv 0.010 1.000 1 2010 2010
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 2018 2018
dbSNP: rs121918097
rs121918097
TTR
10 0.790 0.280 18 31595137 missense variant G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs12679196
rs12679196
2 0.925 0.120 8 139800104 intron variant C/T snv 0.13 0.010 1.000 1 2010 2010
dbSNP: rs1324694
rs1324694
2 0.925 0.120 10 100186688 upstream gene variant C/T snv 7.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs144757781
rs144757781
2 0.925 0.120 21 46431895 missense variant G/A;T snv 5.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs16936752
rs16936752
2 0.925 0.120 9 93301408 intron variant T/G snv 8.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2018 2018
dbSNP: rs17577
rs17577
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs1800977
rs1800977
5 0.851 0.240 9 104928169 intron variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs200525645
rs200525645
F2
1 1.000 0.120 11 46725970 missense variant G/A;T snv 2.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2008 2008
dbSNP: rs3111754
rs3111754
1 1.000 0.120 2 230868988 intron variant T/C snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs55951658
rs55951658
7 0.827 0.200 7 99770202 missense variant T/A;C snv 4.1E-04 9.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs619203
rs619203
6 0.851 0.160 6 117301021 missense variant G/C snv 0.20 0.19 0.010 1.000 1 2008 2008
dbSNP: rs710968
rs710968
2 0.925 0.120 7 74083398 intron variant A/G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs73933023
rs73933023
1 1.000 0.120 19 38566975 missense variant C/G;T snv 2.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs762890408
rs762890408
2 0.925 0.120 21 46431646 missense variant C/T snv 4.0E-05 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs777785946
rs777785946
F2
1 1.000 0.120 11 46723267 missense variant G/A snv 7.0E-06 0.010 1.000 1 2010 2010