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: rs10194776
rs10194776
1 2 231115305 intron variant C/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1476413
rs1476413
10 0.790 0.360 1 11792243 intron variant C/G;T snv 4.0E-06; 0.26 0.23 0.010 1.000 1 2011 2011
dbSNP: rs165656
rs165656
5 0.925 0.200 22 19961340 intron variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs16827801
rs16827801
1 2 231116063 intron variant A/C;G snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs225010
rs225010
2 1.000 0.200 14 80205936 intron variant C/T snv 0.51 0.010 1.000 1 2004 2004
dbSNP: rs225012
rs225012
2 1.000 0.200 14 80204392 intron variant A/C;G snv 0.51 0.010 1.000 1 2004 2004
dbSNP: rs6511901
rs6511901
2 1.000 0.200 19 13916839 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs6530893
rs6530893
2 1.000 0.200 8 15671068 intron variant T/C snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs6994908
rs6994908
2 1.000 0.200 8 15674943 intron variant T/C snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs723744
rs723744
TTR
3 0.925 0.200 18 31592513 intron variant G/T snv 0.38 0.010 1.000 1 2006 2006
dbSNP: rs752306
rs752306
3 0.925 0.200 11 637622 intron variant C/T snv 6.4E-02 4.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs255012
rs255012
2 1.000 0.200 7 41189487 regulatory region variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs121918368
rs121918368
3 0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 0.030 1.000 3 2008 2015
dbSNP: rs121918523
rs121918523
3 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121965020
rs121965020
6 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs122468181
rs122468181
3 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1427146168
rs1427146168
2 1.000 0.200 9 131140671 stop gained C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1464216639
rs1464216639
2 1.000 9 137106289 stop gained G/A snv 6.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs281860639
rs281860639
2 1.000 0.080 X 53199048 stop gained G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs45517305
rs45517305
5 0.851 0.240 16 2081646 stop gained C/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs61751367
rs61751367
3 0.925 0.080 X 154030939 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs879255652
rs879255652
7 0.807 0.120 12 51790425 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.050 1.000 5 2002 2016
dbSNP: rs121434613
rs121434613
4 0.882 0.240 X 111194402 missense variant C/A snv 0.020 1.000 2 2003 2020