rs2072671, CDA

N. diseases: 16
Disease: Congenital dyserythropoietic anemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital dyserythropoietic anemia
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
0.010 GeneticVariation BEFREE This patient was homozygous for both the 79A>C and the -31delC polymorphisms on the CDA gene and promoter, two genotypes with reported opposite effects on CDA phenotype. 22379997 2012