Disease: Congenital dyserythropoietic anemia, type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555789463
rs1555789463
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
CUI: C1306589
Disease:
Congenital dyserythropoietic anemia, type II 		A 0.700 GeneticVariation CLINVAR Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. 23453696 2013