OPN1MW, opsin 1, medium wave sensitive, 2652

N. diseases: 107; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894914
rs104894914
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C0339537
Disease:
Cone monochromatism 		0.810 GeneticVariation BEFREE In contrast, subjects with the C203R missense mutation presented with congenital blue cone monochromacy, with retinal lamination defects being restricted to the ONL+HFL and the degree of residual cone structure (8% of normal) being consistent with that expected for the S-cone submosaic. 23139274 2012
dbSNP: rs104894914
rs104894914
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C0028738
Disease:
Nystagmus 		0.010 GeneticVariation BEFREE Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients. 25168334 2014
dbSNP: rs104894914
rs104894914
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C0042798
Disease:
Low Vision 		0.010 GeneticVariation BEFREE Individuals with LCR deletions or p.Cys203Arg mutations were more likely to have nystagmus and poor vision, with disease progression in some p.Cys203Arg patients. 25168334 2014
dbSNP: rs104894914
rs104894914
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C0339537
Disease:
Cone monochromatism 		C 0.810 CausalMutation CLINVAR
dbSNP: rs104894914
rs104894914
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894915
rs104894915
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894916
rs104894916
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267606927
rs267606927
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887937
Disease:
CONE DYSTROPHY 5, X-LINKED 		C 0.700 CausalMutation CLINVAR
dbSNP: rs724159983
rs724159983
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		C 0.700 CausalMutation CLINVAR
dbSNP: rs104894914
rs104894914
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C0339537
Disease:
Cone monochromatism 		0.810 GeneticVariation UNIPROT Gene conversion between red and defective green opsin gene in blue cone monochromacy. 8666378 1995
dbSNP: rs104894914
rs104894914
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		0.800 GeneticVariation UNIPROT Defective colour vision associated with a missense mutation in the human green visual pigment gene. 1302020 1992
dbSNP: rs104894914
rs104894914
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		0.800 GeneticVariation UNIPROT Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. 12051694 2002
dbSNP: rs104894915
rs104894915
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		0.800 GeneticVariation UNIPROT Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. 12051694 2002
dbSNP: rs104894915
rs104894915
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		0.800 GeneticVariation UNIPROT Defective colour vision associated with a missense mutation in the human green visual pigment gene. 1302020 1992
dbSNP: rs104894916
rs104894916
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		0.800 GeneticVariation UNIPROT Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. 12051694 2002
dbSNP: rs104894916
rs104894916
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C3887938
Disease:
Deuteranomaly 		0.800 GeneticVariation UNIPROT Defective colour vision associated with a missense mutation in the human green visual pigment gene. 1302020 1992
dbSNP: rs267606927
rs267606927
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
CUI: C0339537
Disease:
Cone monochromatism 		0.700 GeneticVariation UNIPROT X-linked cone dystrophy caused by mutation of the red and green cone opsins. 20579627 2010