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: rs7554182
rs7554182
5 1.000 1 182052148 downstream gene variant C/T snv 8.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs7568498
rs7568498
5 1.000 2 161172602 intron variant T/G snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs7818688
rs7818688
3 1.000 0.120 8 95011854 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs7985891
rs7985891
5 1.000 13 93226778 non coding transcript exon variant A/G snv 3.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs80028505
rs80028505
7 0.807 0.240 6 36030611 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs801350
rs801350
5 1.000 2 194682669 intergenic variant G/A snv 0.94 0.700 1.000 1 2014 2014
dbSNP: rs801378
rs801378
5 1.000 2 194695273 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs875858
rs875858
3 1.000 0.080 16 70741552 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9501753
rs9501753
5 1.000 6 221146 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs9636436
rs9636436
5 1.000 2 49270867 intron variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs9827908
rs9827908
5 1.000 3 66395177 intron variant A/G snv 5.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 12 2008 2020
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.040 0.500 4 2006 2013
dbSNP: rs104894619
rs104894619
9 0.827 0.120 17 15231047 missense variant G/A snv 4.0E-03 3.7E-03 0.030 1.000 3 2003 2011
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.030 1.000 3 2010 2019
dbSNP: rs104894621
rs104894621
9 0.790 0.080 17 15239575 missense variant G/A snv 0.020 1.000 2 1998 1999
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs121913590
rs121913590
MPZ
5 0.851 0.080 1 161306864 missense variant G/A snv 7.0E-06 0.020 1.000 2 2006 2012
dbSNP: rs57105105
rs57105105
4 0.925 0.080 8 24953776 missense variant C/T snv 0.020 1.000 2 2004 2015
dbSNP: rs7349683
rs7349683
3 0.925 0.080 4 65332086 synonymous variant C/A;T snv 0.35 0.020 1.000 2 2013 2019
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1045644
rs1045644
1 14 30885890 missense variant C/G snv 0.56 0.51 0.010 1.000 1 2019 2019
dbSNP: rs104894075
rs104894075
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs104894077
rs104894077
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010