rs1448812001
|
1.000 |
0.080 |
1 |
43352645 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2015 |
rs587778515
|
1.000 |
0.080 |
1 |
43338705 |
frameshift variant |
T/-
|
delins
|
4.0E-05
|
4.2E-05
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2001 |
2006 |
rs755257605
|
1.000 |
0.080 |
1 |
43352303 |
splice donor variant |
G/-
|
delins
|
|
2.1E-05
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2013 |
rs763568293
|
1.000 |
0.080 |
1 |
43338633 |
missense variant |
C/T
|
snv
|
1.2E-05
|
6.3E-05
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2015 |
rs1196161699
|
1.000 |
0.080 |
1 |
43338640 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
1 |
2010 |
2010 |
rs148434485
|
1.000 |
0.080 |
1 |
43338146 |
stop gained |
C/T
|
snv
|
3.2E-05
|
3.5E-05
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs1006158872
|
1.000 |
0.080 |
1 |
43346931 |
missense variant |
G/C
|
snv
|
4.0E-06
|
7.0E-06
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121913610
|
1.000 |
0.080 |
1 |
43339435 |
stop gained |
C/A;G;T
|
snv
|
1.2E-05;
1.2E-05
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121913611
|
1.000 |
0.080 |
1 |
43340042 |
missense variant |
C/T
|
snv
|
6.0E-05
|
1.3E-04
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121913612
|
1.000 |
0.080 |
1 |
43352768 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121913613
|
1.000 |
0.080 |
1 |
43349267 |
stop gained |
G/A;C
|
snv
|
|
7.0E-06
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1553128241
|
1.000 |
0.080 |
1 |
43346929 |
missense variant |
T/A
|
snv
|
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs28928908
|
1.000 |
0.080 |
1 |
43340096 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
|
0 |
|
|
rs758428763
|
1.000 |
0.080 |
1 |
43339339 |
missense variant |
T/C
|
snv
|
8.0E-06
|
2.1E-05
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs764904424
|
1.000 |
0.080 |
1 |
43339286 |
missense variant |
C/A;G;T
|
snv
|
1.2E-05;
4.0E-06;
8.0E-06
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs770457041
|
1.000 |
0.080 |
1 |
43340502 |
frameshift variant |
C/-
|
delins
|
8.0E-06
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs587778514
|
0.925 |
0.080 |
1 |
43338564 |
frameshift variant |
CT/-
|
del
|
5.2E-05
|
4.9E-05
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2001 |
2016 |
rs1343123940
|
0.925 |
0.080 |
1 |
43339292 |
frameshift variant |
T/-
|
del
|
4.0E-06
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs28928907
|
0.882 |
0.160 |
1 |
43338634 |
missense variant |
G/A;C
|
snv
|
8.0E-06;
3.8E-04
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
10 |
2000 |
2018 |
rs17292650
|
0.882 |
0.120 |
1 |
43338136 |
missense variant |
G/T
|
snv
|
3.5E-03
|
1.4E-02
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs146249964
|
0.851 |
0.080 |
1 |
43337929 |
splice donor variant |
T/A
|
snv
|
4.0E-04
|
1.7E-04
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1994 |
2014 |
rs750046020
|
0.827 |
0.080 |
1 |
43338646 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
8.0E-05
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2009 |
2015 |
rs121913615
|
0.683 |
0.240 |
1 |
43349338 |
missense variant |
G/C;T
|
snv
|
8.0E-06
|
|
Congenital amegakaryocytic thrombocytopenia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|