Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358191
rs80358191
T 0.810 CausalMutation CLINVAR

dbSNP: rs145553904
rs145553904
0.700 GeneticVariation UNIPROT

dbSNP: rs199786966
rs199786966
0.700 GeneticVariation UNIPROT

dbSNP: rs201235688
rs201235688
0.700 GeneticVariation UNIPROT

dbSNP: rs727504229
rs727504229
AC 0.700 CausalMutation CLINVAR

dbSNP: rs80358192
rs80358192
C 0.700 CausalMutation CLINVAR

dbSNP: rs80358191
rs80358191
0.810 GeneticVariation UNIPROT Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488

2001

dbSNP: rs369487110
rs369487110
0.700 GeneticVariation UNIPROT Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488

2001

dbSNP: rs80358191
rs80358191
0.810 GeneticVariation BEFREE To investigate the endothelial gene expression profile in a Col8a2 Q455K mutant knock-in mouse model of early-onset Fuchs' endothelial corneal dystrophy (FECD) and identify potential targets that can be correlated to human late-onset FECD. 23449721

2013