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: rs121918077
rs121918077
TTR
3 0.882 0.120 18 31592992 missense variant G/C snv 0.800 1.000 22 1986 2014
dbSNP: rs121918084
rs121918084
TTR
2 0.925 0.120 18 31595191 missense variant T/C snv 0.800 1.000 22 1986 2014
dbSNP: rs121918086
rs121918086
TTR
3 1.000 0.120 18 31595160 missense variant G/A snv 0.800 1.000 22 1986 2014
dbSNP: rs121918087
rs121918087
TTR
3 0.882 0.120 18 31598581 missense variant C/G snv 0.800 1.000 22 1986 2014
dbSNP: rs121918093
rs121918093
TTR
4 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
8 0.827 0.280 18 31592921 missense variant T/C snv 0.800 1.000 22 1986 2014
dbSNP: rs267607160
rs267607160
TTR
1 1.000 0.120 18 31595189 missense variant A/C snv 0.800 1.000 22 1986 2014
dbSNP: rs387906523
rs387906523
TTR
3 0.882 0.160 18 31593025 missense variant G/A;C snv 0.800 1.000 22 1986 2014
dbSNP: rs11541790
rs11541790
TTR
1 1.000 0.120 18 31592956 missense variant C/T snv 7.0E-06 0.800 1.000 5 1995 2014
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: 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
10 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
3 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
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