VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18
Disease: Keratoconus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
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
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574 2008
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE One of the mutation (R166W) responsible for keratoconus altered the homeodomain and impaired DNA binding. 11978762 2002