Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908165
rs121908165
HAX1
0.730 GeneticVariation BEFREE These findings suggest that the R86X mutation in the HAX1 gene is an abnormality in Japanese SCN patients with HAX1 deficiency and may lead to neurodevelopmental abnormalities and severe myelopoietic defects. 18611981

2008
dbSNP: rs121908165
rs121908165
HAX1
0.730 GeneticVariation BEFREE Further work-up revealed severe congenital neutropenia caused by a homozygous mutation (R86X) in the antiapoptotic molecule HAX1. 18330843

2007
dbSNP: rs121908165
rs121908165
HAX1
0.730 GeneticVariation BEFREE We described an SCN patient with a homozygous 256C-to-T transition causing an R86X mutation in the HAX1 gene. 18055975

2007
dbSNP: rs121908165
rs121908165
HAX1
T 0.730 CausalMutation CLINVAR