Variant: rs104894033

present in Gene: OPN1SW;CALU present in Chromosome: 7 Position on Chromosome: 128773786 Alleles of this Variant: G/A

rs104894033 in OPN1SW;CALU gene and Color Blindness, Blue PMID 1386496 1992 Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.

PMID 23022137 2012 Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.

PMID 1531728 1992 Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.