Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124226
rs398124226
A 0.700 CausalMutation CLINVAR Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. 25044164

2014

dbSNP: rs398124226
rs398124226
A 0.700 CausalMutation CLINVAR Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. 19621418

2009

dbSNP: rs398124226
rs398124226
A 0.700 CausalMutation CLINVAR Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009