Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141970914
rs141970914
HAX1
0.700 GeneticVariation UNIPROT Digenic mutations in severe congenital neutropenia. 20220065

2010
dbSNP: rs141970914
rs141970914
HAX1
0.700 GeneticVariation UNIPROT A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease). 19796188

2009
dbSNP: rs141970914
rs141970914
HAX1
0.700 GeneticVariation UNIPROT Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. 18337561

2008
dbSNP: rs141970914
rs141970914
HAX1
0.700 GeneticVariation UNIPROT HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). 17187068

2007