Disease: Congenital dyserythropoietic anemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750888081
rs750888081
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
CUI: C0002876
Disease:
Congenital dyserythropoietic anemia 		0.010 GeneticVariation BEFREE Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). 24196372 2014