Source: ALL
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