Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854447
rs137854447
ELANE
T 0.800 CausalMutation CLINVAR Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. 25703294

2016
dbSNP: rs137854447
rs137854447
ELANE
T 0.800 CausalMutation CLINVAR Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 19036076

2009
dbSNP: rs137854447
rs137854447
ELANE
T 0.800 CausalMutation CLINVAR Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. 11675333

2001
dbSNP: rs137854447
rs137854447
ELANE
T 0.800 CausalMutation CLINVAR Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030

1999
dbSNP: rs137854447
rs137854447
ELANE
T 0.800 CausalMutation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs137854448
rs137854448
ELANE
T 0.800 GeneticVariation CLINVAR

dbSNP: rs137854448
rs137854448
ELANE
T 0.800 CausalMutation CLINVAR

dbSNP: rs137854450
rs137854450
ELANE
T 0.800 GeneticVariation CLINVAR Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. 14962902

2004
dbSNP: rs137854450
rs137854450
ELANE
T 0.800 GeneticVariation CLINVAR Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. 18611981

2008
dbSNP: rs137854450
rs137854450
ELANE
T 0.800 CausalMutation CLINVAR

dbSNP: rs28931611
rs28931611
ELANE
C 0.800 CausalMutation CLINVAR

dbSNP: rs137854451
rs137854451
ELANE
A 0.800 CausalMutation CLINVAR

dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. 25427142

2015
dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. 24523240

2014
dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. 17391497

2007
dbSNP: rs57246956
rs57246956
ELANE
A 0.800 CausalMutation CLINVAR Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. 11675333

2001
dbSNP: rs1555710005
rs1555710005
ELANE
A 0.700 CausalMutation CLINVAR Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030

1999
dbSNP: rs1555710005
rs1555710005
ELANE
A 0.700 CausalMutation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs387906553
rs387906553
ELANE
A 0.700 CausalMutation CLINVAR

dbSNP: rs587779413
rs587779413
TCIRG1
A 0.700 CausalMutation CLINVAR TCIRG1-associated congenital neutropenia. 24753205

2014
dbSNP: rs797045009
rs797045009
ELANE
A 0.700 CausalMutation CLINVAR Neutrophil elastase in cyclic and severe congenital neutropenia. 17053055

2007
dbSNP: rs879253882
rs879253882
ELANE
A 0.700 GeneticVariation CLINVAR The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs879253882
rs879253882
ELANE
A 0.700 GeneticVariation CLINVAR Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. 20049848

2010
dbSNP: rs879253882
rs879253882
ELANE
A 0.700 GeneticVariation CLINVAR Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 10581030

1999