rs148957473, VSX1

N. diseases: 5
Disease: Keratoconus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Keratoconus
CUI: C0022578
Disease: Keratoconus
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
Keratoconus
CUI: C0022578
Disease: Keratoconus
0.030 GeneticVariation BEFREE Taken together, our results suggest that p.R166W and p.H244R could have possible pathogenic influences on KTCN. 22171159 2011
Keratoconus
CUI: C0022578
Disease: Keratoconus
0.030 GeneticVariation BEFREE Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574 2008