PDE6C, phosphodiesterase 6C, 5146

N. diseases: 37; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918537
rs121918537
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.800 GeneticVariation UNIPROT Mechanisms of mutant PDE6 proteins underlying retinal diseases. 28583373 2017
dbSNP: rs121918537
rs121918537
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.800 GeneticVariation UNIPROT Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. 21127010 2011
dbSNP: rs121918537
rs121918537
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.800 GeneticVariation UNIPROT Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
dbSNP: rs121918537
rs121918537
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121918538
rs121918538
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Mechanisms of mutant PDE6 proteins underlying retinal diseases. 28583373 2017
dbSNP: rs121918539
rs121918539
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Mechanisms of mutant PDE6 proteins underlying retinal diseases. 28583373 2017
dbSNP: rs267606934
rs267606934
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Mechanisms of mutant PDE6 proteins underlying retinal diseases. 28583373 2017
dbSNP: rs267606936
rs267606936
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Mechanisms of mutant PDE6 proteins underlying retinal diseases. 28583373 2017
dbSNP: rs769506319
rs769506319
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Mechanisms of mutant PDE6 proteins underlying retinal diseases. 28583373 2017
dbSNP: rs121918538
rs121918538
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. 21127010 2011
dbSNP: rs121918539
rs121918539
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. 21127010 2011
dbSNP: rs267606934
rs267606934
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. 21127010 2011
dbSNP: rs267606936
rs267606936
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. 21127010 2011
dbSNP: rs769506319
rs769506319
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. 21127010 2011
dbSNP: rs121918538
rs121918538
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
dbSNP: rs121918539
rs121918539
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
dbSNP: rs267606934
rs267606934
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
dbSNP: rs267606936
rs267606936
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
dbSNP: rs769506319
rs769506319
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751308
Disease:
CONE DYSTROPHY 4 (disorder) 		0.700 GeneticVariation UNIPROT Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. 19615668 2009
dbSNP: rs1023522305
rs1023522305
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C0152200
Disease:
Achromatopsia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1028838062
rs1028838062
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C0152200
Disease:
Achromatopsia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918537
rs121918537
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C0152200
Disease:
Achromatopsia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918537
rs121918537
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751309
Disease:
Achromatopsia 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918538
rs121918538
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751309
Disease:
Achromatopsia 5 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918539
rs121918539
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
CUI: C2751309
Disease:
Achromatopsia 5 		G 0.700 CausalMutation CLINVAR