ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Cyclic 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: rs1555710005
rs1555710005 		0.925 0.040 19 855795 splice donor variant G/A;C snv
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		Hemic and Lymphatic Diseases 0.700 1.000 2 1999 2013