ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
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: rs387906553
rs387906553 		0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2002 2009
dbSNP: rs137854450
rs137854450 		0.882 0.080 19 855574 stop gained C/A;T snv
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs28931611
rs28931611 		0.925 0.080 19 853019 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 2016 2016