Disease: Macrothrombocytopenia ×
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: rs527297896
rs527297896 		1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017