Disease: Thrombasthenia-Thrombocytopenia, Hereditary ×
Source: ALL
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: rs587777211
rs587777211 		1.000 0.080 9 132990916 stop gained C/T snv
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 1 2017 2017
dbSNP: rs1554724694
rs1554724694 		1.000 0.080 9 132989886 stop gained A/T snv
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397989794
rs397989794 		1.000 0.080 9 132990934 frameshift variant -/C delins
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs775963992
rs775963992 		1.000 0.080 9 132990980 missense variant T/A;C snv 4.0E-06; 1.2E-05
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0