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: 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
dbSNP: rs267607160
rs267607160
TTR
1 1.000 0.120 18 31595189 missense variant A/C snv 0.800 1.000 22 1986 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: 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: 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: 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: rs1555631402
rs1555631402
TTR
1 1.000 0.120 18 31595163 missense variant G/A snv 0.700 1.000 5 2012 2018
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: rs121918089
rs121918089
TTR
2 1.000 0.120 18 31598610 missense variant A/G snv 0.800 1.000 29 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: 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: 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: 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: rs121918069
rs121918069
TTR
3 0.925 0.200 18 31595152 missense variant T/A;G snv 0.820 1.000 35 1986 2016
dbSNP: rs121918085
rs121918085
TTR
3 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: 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: rs121918081
rs121918081
TTR
3 0.925 0.200 18 31595124 missense variant A/G snv 0.810 1.000 23 1986 2017
dbSNP: rs121918073
rs121918073
TTR
3 0.882 0.160 18 31598622 missense variant C/A snv 0.800 1.000 22 1986 2014
dbSNP: rs121918077
rs121918077
TTR
3 0.882 0.120 18 31592992 missense variant G/C snv 0.800 1.000 22 1986 2014