CDA, cytidine deaminase, 978

N. diseases: 103; N. variants: 9
Disease: Avellino corneal dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2072671
rs2072671
Entrez Id: 978
Gene Symbol: CDA
CDA
CUI: C1275685
Disease:
Avellino corneal dystrophy 		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