OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; N. variants: 6
Disease: Color Blindness, Blue ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
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
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
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
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
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
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0155017
Disease:
Color Blindness, Blue 		A 0.800 CausalMutation CLINVAR