OPN1SW, opsin 1, short wave sensitive, 611

N. diseases: 164; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894031
rs104894031
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
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: rs104894032
rs104894032
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
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 Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. 23022137 2012
dbSNP: rs104894031
rs104894031
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
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: rs104894031
rs104894031
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
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: rs104894032
rs104894032
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
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: rs104894032
rs104894032
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
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 		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: rs104894031
rs104894031
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
CUI: C0155017
Disease:
Color Blindness, Blue 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894032
rs104894032
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
CUI: C0155017
Disease:
Color Blindness, Blue 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0155017
Disease:
Color Blindness, Blue 		A 0.800 CausalMutation CLINVAR
dbSNP: rs55985730
rs55985730
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
CUI: C0004238
Disease:
Atrial Fibrillation 		G 0.700 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
dbSNP: rs55985730
rs55985730
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
CUI: C0004238
Disease:
Atrial Fibrillation 		G 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs1190183515
rs1190183515
Entrez Id: 611
Gene Symbol: OPN1SW
OPN1SW
CUI: C0155017
Disease:
Color Blindness, Blue 		0.700 GeneticVariation UNIPROT
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0009398
Disease:
Color vision defect 		0.010 GeneticVariation BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012
dbSNP: rs104894033
rs104894033
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0242225
Disease:
Color blindness 		0.010 GeneticVariation BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012
dbSNP: rs1217564642
rs1217564642
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0009398
Disease:
Color vision defect 		0.010 GeneticVariation BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012
dbSNP: rs1217564642
rs1217564642
Entrez Id: 611;813
Gene Symbol: OPN1SW;CALU
OPN1SW;CALU
CUI: C0242225
Disease:
Color blindness 		0.010 GeneticVariation BEFREE Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. 23022137 2012