WAS, WASP actin nucleation promoting factor, 7454

N. diseases: 204; N. variants: 37
Disease: Congenital neutropenia ×
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: rs132630274
rs132630274 		0.882 0.120 X 48688331 missense variant T/C snv
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006