Gene: VPS45 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691903
rs1131691903
VPS45
0.010 GeneticVariation BEFREE A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. 28453180

2017
dbSNP: rs879255237
rs879255237
VPS45
0.010 GeneticVariation BEFREE Using homozygosity mapping followed by exome sequencing, we identified a Thr224Asn mutation in the VPS45 gene in infants from consanguineous families who suffered from life-threatening neutropenia, which was refractory to granulocyte CSF, from defective platelet aggregation and myelofibrosis. 23599270

2013