Variant: rs141970914 

    present in Gene: HAX1
    present in Chromosome: 1
    Position on Chromosome: 154274959
    Alleles of this Variant: G/A

rs141970914 in HAX1 gene and Severe congenital neutropenia PMID 19796188 2009 A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).

PMID 20220065 2010 Digenic mutations in severe congenital neutropenia.

PMID 17187068 2007 HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

PMID 18337561 2008 Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.