Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs146249964
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
dbSNP: rs587778514
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
dbSNP: rs1448812001
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
dbSNP: rs587778515
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
dbSNP: rs750046020
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
dbSNP: rs755257605
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
dbSNP: rs763568293
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
dbSNP: rs1196161699
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
dbSNP: rs148434485
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
dbSNP: rs1006158872
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
dbSNP: rs121913610
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
dbSNP: rs121913611
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
dbSNP: rs121913612
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
dbSNP: rs121913613
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
dbSNP: rs1343123940
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
dbSNP: rs1553128241
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
dbSNP: rs28928908
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
dbSNP: rs758428763
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
dbSNP: rs764904424
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
dbSNP: rs770457041
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
dbSNP: rs17292650
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
dbSNP: rs28928907
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
dbSNP: rs121913615
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