Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Color Blindness, Blue
CUI: C0155017
Disease: Color Blindness, Blue
0.800 GeneticVariation UNIPROT Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137 2012
Color Blindness, Blue
CUI: C0155017
Disease: Color Blindness, Blue
0.800 GeneticVariation UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496 1992
Color Blindness, Blue
CUI: C0155017
Disease: Color Blindness, Blue
0.800 GeneticVariation UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728 1992
Color Blindness, Blue
CUI: C0155017
Disease: Color Blindness, Blue
0.800 CausalMutation CLINVAR