Gene: ELANE ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906553
rs387906553
ELANE
0.020 GeneticVariation BEFREE Three cases of familial SCN (P13L, R52P, and S97L), 2 of familial CN (W212stop and P110L), and 1 of sporadic SCN (V72M) were shown to have heterozygous mutations in the Ela2 gene. 19415009

2009
dbSNP: rs387906553
rs387906553
ELANE
0.020 GeneticVariation BEFREE Collectively, these data suggest that expression of V72M NE is not sufficient to induce an SCN phenotype or leukemia in mice. 12384420

2002
dbSNP: rs137854450
rs137854450
ELANE
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
dbSNP: rs28931611
rs28931611
ELANE
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