rs121918070
|
|
1.000 |
0.120 |
18 |
31595157 |
missense variant
|
A/G
|
snv
|
4.0E-06
|
1.4E-05
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
39 |
1986 |
2015 |
rs121918089
|
|
1.000 |
0.120 |
18 |
31598610 |
missense variant
|
A/G
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
29 |
1986 |
2014 |
rs121918083
|
|
1.000 |
0.120 |
18 |
31592914 |
missense variant
|
T/C
|
snv
|
|
7.0E-06
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
26 |
1986 |
2014 |
rs876658108
|
|
1.000 |
0.120 |
18 |
31598649 |
missense variant
|
G/T
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
26 |
1986 |
2017 |
rs121918072
|
|
1.000 |
0.120 |
18 |
31595230 |
missense variant
|
T/G
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
25 |
1986 |
2014 |
rs121918086
|
|
1.000 |
0.120 |
18 |
31595160 |
missense variant
|
G/A
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
22 |
1986 |
2014 |
rs267607160
|
|
1.000 |
0.120 |
18 |
31595189 |
missense variant
|
A/C
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
22 |
1986 |
2014 |
rs121918078
|
|
1.000 |
0.120 |
18 |
31593019 |
missense variant
|
G/A
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
1.000 |
20 |
1986 |
2007 |
rs144965179
|
|
1.000 |
0.120 |
18 |
31598662 |
missense variant
|
A/G
|
snv
|
1.2E-05
|
2.8E-05
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
1.000 |
20 |
1986 |
2007 |
rs1456101911
|
|
1.000 |
0.120 |
18 |
31598608 |
splice donor variant
|
C/A;T
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
1.000 |
20 |
1986 |
2007 |
rs1555631387
|
|
1.000 |
0.120 |
18 |
31595125 |
missense variant
|
C/G
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
1.000 |
8 |
1992 |
2017 |
rs1567945632
|
|
1.000 |
0.120 |
18 |
31592938 |
missense variant
|
G/A
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
1.000 |
8 |
1996 |
2015 |
rs121918096
|
|
1.000 |
0.120 |
18 |
31598652 |
inframe deletion
|
GTC/-
|
delins
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
1.000 |
6 |
1997 |
2016 |
rs11541790
|
|
1.000 |
0.120 |
18 |
31592956 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
5 |
1995 |
2014 |
rs1555631402
|
|
1.000 |
0.120 |
18 |
31595163 |
missense variant
|
G/A
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
1.000 |
5 |
2012 |
2018 |
rs121918069
|
|
0.925 |
0.200 |
18 |
31595152 |
missense variant
|
T/A;G
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.820 |
1.000 |
35 |
1986 |
2016 |
rs121918081
|
|
0.925 |
0.200 |
18 |
31595124 |
missense variant
|
A/G
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.810 |
1.000 |
23 |
1986 |
2017 |
rs121918084
|
|
0.925 |
0.120 |
18 |
31595191 |
missense variant
|
T/C
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
22 |
1986 |
2014 |
rs72922940
|
|
0.925 |
0.160 |
18 |
31590735 |
intron variant
|
A/G
|
snv
|
|
9.8E-02
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs730881167
|
|
0.925 |
0.120 |
18 |
31598638 |
missense variant
|
A/C
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
|
0 |
|
|
rs730881169
|
|
0.925 |
0.120 |
18 |
31593020 |
missense variant
|
C/A;T
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.700 |
|
0 |
|
|
rs121918085
|
|
0.882 |
0.160 |
18 |
31595181 |
missense variant
|
A/T
|
snv
|
1.6E-05
|
3.5E-05
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
30 |
1986 |
2017 |
rs121918071
|
|
0.882 |
0.240 |
18 |
31595209 |
missense variant
|
C/A
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
29 |
1986 |
2015 |
rs121918091
|
|
0.882 |
0.200 |
18 |
31595169 |
missense variant
|
T/C
|
snv
|
4.0E-06
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.800 |
1.000 |
29 |
1986 |
2016 |
rs121918068
|
|
0.882 |
0.200 |
18 |
31592983 |
missense variant
|
T/A;C
|
snv
|
|
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
0.810 |
1.000 |
23 |
1986 |
2017 |