Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894031
rs104894031
OPN1SW
0.800 GeneticVariation UNIPROT Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137

2012
dbSNP: rs104894031
rs104894031
OPN1SW
0.800 GeneticVariation UNIPROT Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. 1386496

1992
dbSNP: rs104894031
rs104894031
OPN1SW
0.800 GeneticVariation UNIPROT Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. 1531728

1992
dbSNP: rs104894031
rs104894031
OPN1SW
T 0.800 CausalMutation CLINVAR