rs80358192, COL8A2

N. diseases: 6
Disease: Fine corneal edema ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fine corneal edema
CUI: C0474441
Disease: Fine corneal edema
0.010 GeneticVariation BEFREE Peripheral, anterior microcystic corneal edema represents a characteristic aspect of the phenotype associated with the p.(Leu450Trp) substitution in COL8A2, in at least 2 of 3 known affected families worldwide. 26989952 2016