Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148957473
rs148957473
0.030 GeneticVariation BEFREE The previously reported c.731A>G (p.His244Arg) was detected in a patient with sporadic keratoconus, and not present in the controls. 23592923

2013

dbSNP: rs148957473
rs148957473
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: rs148957473
rs148957473
0.030 GeneticVariation BEFREE Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574

2008