WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
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: rs132630273
rs132630273
0.925 0.120 X 48684284 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019