ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Severe congenital neutropenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854450
rs137854450
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1853118
Disease:
Severe congenital neutropenia 		0.010 GeneticVariation BEFREE We investigated CN-specific p.C71R and p.V174_C181del (NP_001963.1) and CN/CyN-shared p.S126L (NP_001963.1) ELANE mutants. 26567890 2016