rs148957473, VSX1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Keratoconus 1
CUI: C1835677
Disease: Keratoconus 1
0.700 GeneticVariation UNIPROT
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
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
0.010 GeneticVariation BEFREE H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. 16384943 2006
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.010 GeneticVariation BEFREE H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. 16384943 2006
Polymorphous corneal dystrophy
CUI: C0339284
Disease: Polymorphous corneal dystrophy
0.010 GeneticVariation BEFREE H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. 16384943 2006