Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918223
rs121918223
SEC23B
T 0.800 CausalMutation CLINVAR

dbSNP: rs727504145
rs727504145
SEC23B
0.800 GeneticVariation UNIPROT

dbSNP: rs121918224
rs121918224
SEC23B
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918225
rs121918225
SEC23B
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918225
rs121918225
SEC23B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918226
rs121918226
SEC23B
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555788144
rs1555788144
SEC23B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568606490
rs1568606490
SEC23B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568617456
rs1568617456
SEC23B
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918221
rs121918221
SEC23B
0.810 GeneticVariation BEFREE E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. 21252497

2011
dbSNP: rs121918223
rs121918223
SEC23B
0.800 GeneticVariation UNIPROT Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. 19621418

2009
dbSNP: rs398124226
rs398124226
SEC23B
A 0.700 CausalMutation CLINVAR Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. 19621418

2009
dbSNP: rs121918221
rs121918221
SEC23B
A 0.810 CausalMutation CLINVAR Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene. 22208203

2011
dbSNP: rs727504145
rs727504145
SEC23B
T 0.800 CausalMutation CLINVAR Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. 23453696

2013
dbSNP: rs1555789463
rs1555789463
SEC23B
A 0.700 GeneticVariation CLINVAR Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II. 23453696

2013
dbSNP: rs121918221
rs121918221
SEC23B
A 0.810 CausalMutation CLINVAR Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. 20015893

2010
dbSNP: rs121918222
rs121918222
SEC23B
T 0.800 CausalMutation CLINVAR Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. 20015893

2010
dbSNP: rs727504145
rs727504145
SEC23B
T 0.800 CausalMutation CLINVAR Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. 20015893

2010
dbSNP: rs121918221
rs121918221
SEC23B
A 0.810 CausalMutation CLINVAR Most CDA II patients in Israel are of Moroccan Jewish origin and carry a common SEC23B mutation, E109K, the first to be described as a founder mutation causing CDA II. 21252497

2011
dbSNP: rs727504145
rs727504145
SEC23B
T 0.800 CausalMutation CLINVAR Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene. 20941788

2010
dbSNP: rs121918221
rs121918221
SEC23B
0.810 GeneticVariation UNIPROT Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009
dbSNP: rs121918221
rs121918221
SEC23B
A 0.810 CausalMutation CLINVAR Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009
dbSNP: rs121918222
rs121918222
SEC23B
T 0.800 CausalMutation CLINVAR Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009
dbSNP: rs121918222
rs121918222
SEC23B
0.800 GeneticVariation UNIPROT Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009
dbSNP: rs121918223
rs121918223
SEC23B
0.800 GeneticVariation UNIPROT Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. 19561605

2009