ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Neutropenia, Severe Congenital, X-Linked ×
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: rs201117839
rs201117839 		1.000 0.080 19 855957 splice acceptor variant G/A snv 1.2E-05
CUI: C1845987
Disease: Neutropenia, Severe Congenital, X-Linked
Neutropenia, Severe Congenital, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0