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: 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: rs137854447
rs137854447
ELANE
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
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
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs137854450
rs137854450
ELANE
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs137854451
rs137854451
ELANE
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs28931611
rs28931611
ELANE
0.800 GeneticVariation UNIPROT The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT 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 The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 23463630

2013
dbSNP: rs137854447
rs137854447
ELANE
0.800 GeneticVariation UNIPROT Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. 20803142

2011
dbSNP: rs137854447
rs137854447
ELANE
0.800 GeneticVariation UNIPROT Four novel ELANE mutations in patients with congenital neutropenia. 21425445

2011
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. 20803142

2011
dbSNP: rs137854448
rs137854448
ELANE
0.800 GeneticVariation UNIPROT Four novel ELANE mutations in patients with congenital neutropenia. 21425445

2011
dbSNP: rs137854450
rs137854450
ELANE
0.800 GeneticVariation UNIPROT Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. 20803142

2011
dbSNP: rs137854450
rs137854450
ELANE
0.800 GeneticVariation UNIPROT Four novel ELANE mutations in patients with congenital neutropenia. 21425445

2011
dbSNP: rs137854451
rs137854451
ELANE
0.800 GeneticVariation UNIPROT Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. 20803142

2011
dbSNP: rs137854451
rs137854451
ELANE
0.800 GeneticVariation UNIPROT Four novel ELANE mutations in patients with congenital neutropenia. 21425445

2011
dbSNP: rs28931611
rs28931611
ELANE
0.800 GeneticVariation UNIPROT Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. 20803142

2011
dbSNP: rs28931611
rs28931611
ELANE
0.800 GeneticVariation UNIPROT Four novel ELANE mutations in patients with congenital neutropenia. 21425445

2011
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Four novel ELANE mutations in patients with congenital neutropenia. 21425445

2011
dbSNP: rs57246956
rs57246956
ELANE
0.800 GeneticVariation UNIPROT Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation. 20803142

2011
dbSNP: rs137854447
rs137854447
ELANE
0.800 GeneticVariation UNIPROT Pegfilgrastim in children with severe congenital neutropenia. 19927291

2010
dbSNP: rs137854447
rs137854447
ELANE
0.800 GeneticVariation UNIPROT Digenic mutations in severe congenital neutropenia. 20220065

2010