OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; N. variants: 6
Disease: Color blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242225
Disease: Color blindness
Color blindness 		0.010 GeneticVariation disease BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012