Disease: Neutropenia, Severe Congenital, Autosomal Recessive 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148559256
rs148559256
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		T 0.700 CausalMutation CLINVAR A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. 23758768 2013