COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
Disease: Fuchs Endothelial Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201235688
rs201235688
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
CUI: C0016781
Disease:
Fuchs Endothelial Dystrophy 		0.010 GeneticVariation BEFREE The Arg434His mutation in the COL8A2 gene, previously associated with FECD, has been shown not to segregate with the disease phenotype, and thus may not be considered a disease-causing mutation. 16936088 2006