Variant: rs1555789463

present in Gene: SEC23B present in Chromosome: 20 Position on Chromosome: 18535747 Alleles of this Variant: G/A

rs1555789463 in SEC23B gene and Congenital dyserythropoietic anemia, type II PMID 23453696 2013 Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.

rs1555789463 in SEC23B gene and HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA PMID 23453696 2013 Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.