Source: ALL
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: rs104894664
rs104894664
TTR
6 0.882 0.120 18 31592959 missense variant G/A snv 0.700 0
dbSNP: rs121918074
rs121918074
TTR
5 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.700 0
dbSNP: rs730881163
rs730881163
TTR
3 0.882 0.160 18 31595155 missense variant C/A snv 0.700 0
dbSNP: rs730881167
rs730881167
TTR
2 0.925 0.120 18 31598638 missense variant A/C snv 0.700 0
dbSNP: rs730881169
rs730881169
TTR
2 0.925 0.120 18 31593020 missense variant C/A;T snv 0.700 0
dbSNP: rs958191819
rs958191819
TTR
6 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.700 0
dbSNP: rs1555631390
rs1555631390
TTR
4 0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 0.700 1.000 1 2018 2018
dbSNP: rs10163755
rs10163755
DSG4 ; DSG1-AS1
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs121918095
rs121918095
TTR
6 0.827 0.160 18 31598602 missense variant G/A snv 7.9E-04 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs140226130
rs140226130
CCDC178
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs28933981
rs28933981
TTR
8 0.807 0.200 18 31598647 missense variant C/T snv 1.5E-03 1.7E-03 0.010 1.000 1 1995 1995
dbSNP: rs2949506
rs2949506 		5 0.851 0.160 18 30217168 intergenic variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs545532525
rs545532525
LDLR
5 0.851 0.200 19 11110753 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs550521638
rs550521638
NPPB
2 0.925 0.160 1 11858427 missense variant C/T snv 5.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs554521234
rs554521234
GAREM1
4 0.851 0.160 18 32231169 intron variant C/T snv 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs72922940
rs72922940
TTR
2 0.925 0.160 18 31590735 intron variant A/G snv 9.8E-02 0.010 1.000 1 2015 2015
dbSNP: rs746303115
rs746303115
TBP
3 0.925 0.200 6 170561827 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs766001707
rs766001707
ATXN3
6 0.851 0.200 14 92096772 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs786201856
rs786201856
APC
10 0.776 0.200 5 112815507 stop gained C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs935577712
rs935577712
ATXN2
3 0.925 0.200 12 111552304 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs970866
rs970866
B4GALT6
4 0.851 0.160 18 31681955 intron variant C/T snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs386134269
rs386134269
TTR
3 0.882 0.120 18 31595127 missense variant A/C;G snv 0.800 1.000 2 2013 2014
dbSNP: rs1800458
rs1800458
TTR
5 0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02 0.020 0.500 2 2015 2016
dbSNP: rs376961112
rs376961112
GSN
4 0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05 0.020 1.000 2 2011 2011