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: rs1194477276
rs1194477276
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		G 0.700 GeneticVariation CLINVAR Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. 25391451 2014
dbSNP: rs1194477276
rs1194477276
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3
CUI: C2675526
Disease:
Neutropenia, Severe Congenital, Autosomal Recessive 4 		G 0.700 GeneticVariation CLINVAR A syndrome with congenital neutropenia and mutations in G6PC3. 19118303 2009