COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
Disease: Corneal dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358192
rs80358192
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C0010036
Disease:
Corneal dystrophy 		0.010 GeneticVariation BEFREE Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2. 26989952 2016