rs1188571702
|
1.000 |
0.080 |
1 |
173903962 |
missense variant |
A/G
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121909560
|
1.000 |
0.080 |
1 |
173909737 |
frameshift variant |
CT/-
|
delins
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121909561
|
1.000 |
0.080 |
1 |
173909681 |
frameshift variant |
TCCA/-
|
delins
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121909570
|
1.000 |
0.080 |
1 |
173911923 |
missense variant |
T/C;G
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1301351856
|
1.000 |
0.080 |
1 |
173903973 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1411331203
|
1.000 |
0.080 |
1 |
173914564 |
missense variant |
G/T
|
snv
|
|
7.0E-06
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs147266200
|
1.000 |
0.080 |
1 |
173914696 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs28929469
|
1.000 |
0.080 |
1 |
173914795 |
missense variant |
G/A
|
snv
|
2.0E-05
|
7.0E-06
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
|
0 |
|
|
rs765445413
|
1.000 |
0.080 |
1 |
173911974 |
missense variant |
T/G
|
snv
|
4.0E-06
|
7.0E-06
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs786204063
|
1.000 |
0.080 |
1 |
173911959 |
inframe deletion |
AAG/-
|
delins
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs863224495
|
1.000 |
0.080 |
1 |
173909645 |
frameshift variant |
G/-
|
delins
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs907768931
|
1.000 |
0.080 |
1 |
173914677 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121909551
|
1.000 |
0.080 |
1 |
173914743 |
missense variant |
G/A
|
snv
|
8.2E-04
|
9.0E-04
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
27 |
1986 |
2019 |
rs121909552
|
0.925 |
0.080 |
1 |
173914725 |
missense variant |
C/T
|
snv
|
9.5E-05
|
1.7E-04
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
26 |
1984 |
2017 |
rs121909546
|
1.000 |
0.080 |
1 |
173903978 |
missense variant |
C/T
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
23 |
1986 |
2013 |
rs121909547
|
1.000 |
0.080 |
1 |
173914726 |
missense variant |
G/A;T
|
snv
|
4.8E-05
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
22 |
1986 |
2019 |
rs121909548
|
1.000 |
0.080 |
1 |
173904038 |
missense variant |
C/A;G
|
snv
|
8.9E-04
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |
rs121909549
|
1.000 |
0.080 |
1 |
173904010 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |
rs121909550
|
1.000 |
0.080 |
1 |
173904007 |
missense variant |
G/A;C
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |
rs121909554
|
1.000 |
0.080 |
1 |
173904011 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |
rs121909555
|
1.000 |
0.080 |
1 |
173903968 |
missense variant |
G/A
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |
rs121909557
|
1.000 |
0.080 |
1 |
173904044 |
missense variant |
C/T
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |
rs121909558
|
1.000 |
0.080 |
1 |
173914845 |
missense variant |
A/T
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |
rs121909564
|
1.000 |
0.080 |
1 |
173903902 |
missense variant |
G/A
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |
rs121909565
|
1.000 |
0.080 |
1 |
173909564 |
missense variant |
A/G
|
snv
|
|
|
Antithrombin III Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
21 |
1986 |
2013 |