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: rs1217777010
rs1217777010
1 1.000 0.040 11 116836182 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1264519280
rs1264519280
2 1.000 0.040 1 32014083 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1294297409
rs1294297409
TTR
1 1.000 0.040 18 31592996 missense variant C/A snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1309900188
rs1309900188
GSN
1 1.000 0.040 9 121312342 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1454603223
rs1454603223
LYZ
1 1.000 0.040 12 69353160 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs371557337
rs371557337
2 1.000 0.040 5 150733475 start lost T/C;G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs371792178
rs371792178
3 0.925 0.040 1 97699507 missense variant G/A;C snv 3.6E-05; 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs535229743
rs535229743
GSN
1 1.000 0.040 9 121327419 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs62093482
rs62093482
TTR
1 1.000 0.040 18 31598936 3 prime UTR variant C/T snv 1.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs7982
rs7982
CLU
1 1.000 0.040 8 27604964 missense variant A/C;G snv 0.64 0.60 0.010 1.000 1 2016 2016
dbSNP: rs80356710
rs80356710
3 0.925 0.040 20 4699655 stop gained T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1440063914
rs1440063914
2 0.925 0.080 2 8779781 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs1473654052
rs1473654052
2 0.925 0.080 X 118542729 missense variant A/C snv 9.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs766474822
rs766474822
2 0.925 0.080 6 43770990 missense variant G/A snv 1.4E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs767006697
rs767006697
2 0.925 0.080 16 3254658 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs946880677
rs946880677
FAP
4 0.882 0.080 2 162224488 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.030 1.000 3 2003 2011
dbSNP: rs121918077
rs121918077
TTR
3 0.882 0.120 18 31592992 missense variant G/C snv 0.030 1.000 3 1999 2018
dbSNP: rs10097505
rs10097505
ARC
2 0.925 0.120 8 142612823 3 prime UTR variant G/A snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs104894665
rs104894665
TTR
5 0.851 0.120 18 31593017 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs121918074
rs121918074
TTR
5 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.010 1.000 1 1994 1994
dbSNP: rs121918088
rs121918088
TTR
4 0.851 0.120 18 31598631 missense variant T/C snv 0.010 1.000 1 2001 2001
dbSNP: rs13031703
rs13031703
2 0.925 0.120 2 127129099 intergenic variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs1335856860
rs1335856860
FAP
2 0.925 0.120 2 162183437 missense variant T/C snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 1.000 1 2018 2018