Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315432
rs74315432
0.030 GeneticVariation BEFREE Taken together, our results suggest that p.R166W and p.H244R could have possible pathogenic influences on KTCN. 22171159

2011

dbSNP: rs74315432
rs74315432
0.030 GeneticVariation BEFREE Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574

2008

dbSNP: rs74315432
rs74315432
0.030 GeneticVariation BEFREE One of the mutation (R166W) responsible for keratoconus altered the homeodomain and impaired DNA binding. 11978762

2002