Variant: rs104894031 

    present in Gene: OPN1SW
    present in Chromosome: 7
    Position on Chromosome: 128775556
    Alleles of this Variant: C/T

rs104894031 in OPN1SW gene and Color Blindness, Blue PMID 1531728 1992 Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.

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

PMID 1386496 1992 Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.