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: rs121918078
rs121918078
TTR
1 1.000 0.120 18 31593019 missense variant G/A snv 0.700 1.000 20 1986 2007
dbSNP: rs121918097
rs121918097
TTR
2 0.790 0.280 18 31595137 missense variant G/A snv 0.700 1.000 20 1986 2007
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: rs121918076
rs121918076
TTR
1 0.882 0.120 18 31595129 missense variant T/A;C;G snv 0.700 1.000 12 1990 2013
dbSNP: rs1555631387
rs1555631387
TTR
1 1.000 0.120 18 31595125 missense variant C/G snv 0.700 1.000 8 1992 2017
dbSNP: rs1567945632
rs1567945632
TTR
1 1.000 0.120 18 31592938 missense variant G/A snv 0.700 1.000 8 1996 2015
dbSNP: rs121918096
rs121918096
TTR
1 1.000 0.120 18 31598652 inframe deletion GTC/- delins 0.700 1.000 6 1997 2016
dbSNP: rs1555631402
rs1555631402
TTR
1 1.000 0.120 18 31595163 missense variant G/A snv 0.700 1.000 5 2012 2018
dbSNP: rs1555631390
rs1555631390
TTR
4 0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins 0.700 1.000 1 2018 2018
dbSNP: rs104894664
rs104894664
TTR
1 0.882 0.120 18 31592959 missense variant G/A snv 0.700 0
dbSNP: rs121918074
rs121918074
TTR
1 0.851 0.120 18 31595247 missense variant C/A snv 6.0E-04 3.9E-04 0.700 0
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: rs958191819
rs958191819
TTR
1 0.851 0.240 18 31595212 missense variant A/T snv 7.0E-06 0.700 0
dbSNP: rs121918070
rs121918070
TTR
2 1.000 0.120 18 31595157 missense variant A/G snv 4.0E-06 1.4E-05 0.800 1.000 39 1986 2015
dbSNP: rs121918085
rs121918085
TTR
1 0.882 0.160 18 31595181 missense variant A/T snv 1.6E-05 3.5E-05 0.800 1.000 30 1986 2017
dbSNP: rs121918071
rs121918071
TTR
1 0.882 0.240 18 31595209 missense variant C/A snv 0.800 1.000 29 1986 2015
dbSNP: rs121918089
rs121918089
TTR
1 1.000 0.120 18 31598610 missense variant A/G snv 0.800 1.000 29 1986 2014
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: rs121918098
rs121918098
TTR
2 0.807 0.200 18 31592939 missense variant A/G snv 0.800 1.000 29 1986 2014
dbSNP: rs121918083
rs121918083
TTR
1 1.000 0.120 18 31592914 missense variant T/C snv 7.0E-06 0.800 1.000 26 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
dbSNP: rs121918072
rs121918072
TTR
1 1.000 0.120 18 31595230 missense variant T/G snv 0.800 1.000 25 1986 2014