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: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 1.000 16 1999 2019
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.100 1.000 14 1997 2019
dbSNP: rs121918082
rs121918082
TTR
6 0.827 0.280 18 31595244 missense variant G/C snv 0.020 1.000 2 2019 2019
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2018 2020
dbSNP: rs10163755
rs10163755
6 0.827 0.200 18 31405413 intron variant G/A snv 0.74 0.010 1.000 1 2019 2019
dbSNP: rs11541796
rs11541796
TTR
9 0.807 0.280 18 31593011 missense variant A/G snv 0.010 1.000 1 1998 1998
dbSNP: rs121918085
rs121918085
TTR
3 0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05 0.010 1.000 1 2017 2017
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
8 0.790 0.200 18 33336845 intron variant -/CTTTTTGCT delins 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800458
rs1800458
TTR
5 0.851 0.280 18 31592902 missense variant G/A snv 5.1E-02 5.2E-02 0.010 1.000 1 2015 2015
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: rs376961112
rs376961112
GSN
4 0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs550521638
rs550521638
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
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: rs730881163
rs730881163
TTR
3 0.882 0.160 18 31595155 missense variant C/A snv 0.010 1.000 1 1995 1995
dbSNP: rs79977247
rs79977247
TTR
9 0.776 0.200 18 31592975 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs958191819
rs958191819
TTR
6 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs970866
rs970866
4 0.851 0.160 18 31681955 intron variant C/T snv 0.89 0.010 1.000 1 2019 2019