Gene: TTR ×
Source: CURATED ×
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: rs121918090
rs121918090
TTR
1 0.790 0.240 18 31593026 missense variant G/C snv 0.810 1.000 25 1986 2016
dbSNP: rs121918091
rs121918091
TTR
3 0.882 0.200 18 31595169 missense variant T/C snv 4.0E-06 0.800 1.000 29 1986 2016
dbSNP: rs121918093
rs121918093
TTR
1 0.882 0.200 18 31592944 missense variant G/A;C snv 4.0E-06 0.800 1.000 22 1986 2014
dbSNP: rs121918094
rs121918094
TTR
1 0.827 0.280 18 31592921 missense variant T/C snv 0.800 1.000 22 1986 2014
dbSNP: rs121918096
rs121918096
TTR
1 1.000 0.120 18 31598652 inframe deletion GTC/- delins 0.700 1.000 6 1997 2016
dbSNP: rs121918097
rs121918097
TTR
2 0.790 0.280 18 31595137 missense variant G/A snv 0.700 1.000 20 1986 2007
dbSNP: rs121918098
rs121918098
TTR
2 0.807 0.200 18 31592939 missense variant A/G snv 0.800 1.000 29 1986 2014
dbSNP: rs121918100
rs121918100
TTR
2 0.827 0.160 18 31595184 missense variant T/C snv 0.800 1.000 25 1986 2015
dbSNP: rs144965179
rs144965179
TTR
1 1.000 0.120 18 31598662 missense variant A/G snv 1.2E-05 2.8E-05 0.700 1.000 20 1986 2007
dbSNP: rs1456101911
rs1456101911
TTR
1 1.000 0.120 18 31598608 splice donor variant C/A;T snv 0.700 1.000 20 1986 2007
dbSNP: rs1555631387
rs1555631387
TTR
1 1.000 0.120 18 31595125 missense variant C/G snv 0.700 1.000 8 1992 2017
dbSNP: rs1555631390
rs1555631390
TTR
4 0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 0.700 1.000 1 2018 2018
dbSNP: rs1555631402
rs1555631402
TTR
1 1.000 0.120 18 31595163 missense variant G/A snv 0.700 1.000 5 2012 2018
dbSNP: rs1567945632
rs1567945632
TTR
1 1.000 0.120 18 31592938 missense variant G/A snv 0.700 1.000 8 1996 2015
dbSNP: rs267607160
rs267607160
TTR
1 1.000 0.120 18 31595189 missense variant A/C snv 0.800 1.000 22 1986 2014
dbSNP: rs267607161
rs267607161
TTR
1 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.870 1.000 33 1986 2020
dbSNP: rs28933979
rs28933979
TTR
4 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.900 0.989 44 1984 2019
dbSNP: rs386134269
rs386134269
TTR
1 0.882 0.120 18 31595127 missense variant A/C;G snv 0.800 1.000 2 2013 2014
dbSNP: rs387906523
rs387906523
TTR
1 0.882 0.160 18 31593025 missense variant G/A;C snv 0.800 1.000 22 1986 2014
dbSNP: rs730881163
rs730881163
TTR
1 0.882 0.160 18 31595155 missense variant C/A snv 0.700 0
dbSNP: rs730881167
rs730881167
TTR
1 0.925 0.120 18 31598638 missense variant A/C snv 0.700 0
dbSNP: rs730881169
rs730881169
TTR
1 0.925 0.120 18 31593020 missense variant C/A;T snv 0.700 0
dbSNP: rs76992529
rs76992529
TTR
10 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.860 1.000 39 1986 2019
dbSNP: rs79977247
rs79977247
TTR
2 0.776 0.200 18 31592975 missense variant T/C;G snv 0.810 1.000 22 1986 2014
dbSNP: rs876658108
rs876658108
TTR
1 1.000 0.120 18 31598649 missense variant G/T snv 0.800 1.000 26 1986 2017