Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358191
rs80358191
0.020 GeneticVariation BEFREE The present study used a transgenic Col8a2(Q455K/Q455K) knock-in mouse model of early-onset FECD to identify the endothelial expression profile of specific cellular stress response-related targets, which may be relevant to late-onset FECD. 22956607

2012

dbSNP: rs80358191
rs80358191
0.020 GeneticVariation BEFREE All affected individuals were analyzed for the two previously reported FECD mutations in the COL8A2 gene (L450W and Q455K). 18502986

2009