Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122456133
rs122456133
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.800 GeneticVariation UNIPROT A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. 22194652 2011
dbSNP: rs122456133
rs122456133
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.800 GeneticVariation UNIPROT A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. 15897456 2005
dbSNP: rs122456133
rs122456133
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.800 GeneticVariation UNIPROT Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 12187427 2002
dbSNP: rs122456133
rs122456133
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.800 GeneticVariation UNIPROT Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. 12111638 2002
dbSNP: rs122456133
rs122456133
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.800 GeneticVariation UNIPROT A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. 11281458 2001
dbSNP: rs122456133
rs122456133
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 9662400 1998
dbSNP: rs122456133
rs122456133
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.800 GeneticVariation UNIPROT An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 9662399 1998
dbSNP: rs122456133
rs122456133
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		T 0.800 CausalMutation CLINVAR
dbSNP: rs122456136
rs122456136
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.710 GeneticVariation UNIPROT A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. 22194652 2011
dbSNP: rs122456136
rs122456136
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.710 GeneticVariation BEFREE To describe the phenotype in a New Zealand family with an unusual severe X-linked retinal disorder with a novel I745T mutation in CACNA1F, the gene responsible for incomplete congenital stationary night blindness (CSNB2). 15807819 2005
dbSNP: rs122456136
rs122456136
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.710 GeneticVariation UNIPROT A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. 15897456 2005
dbSNP: rs122456136
rs122456136
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.710 GeneticVariation UNIPROT Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 12187427 2002
dbSNP: rs122456136
rs122456136
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.710 GeneticVariation UNIPROT Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. 12111638 2002
dbSNP: rs122456136
rs122456136
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.710 GeneticVariation UNIPROT A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. 11281458 2001
dbSNP: rs122456136
rs122456136
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.710 GeneticVariation UNIPROT Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 9662400 1998
dbSNP: rs122456136
rs122456136
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.710 GeneticVariation UNIPROT An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. 9662399 1998
dbSNP: rs1557106557
rs1557106557
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0271092
Disease:
Progressive cone dystrophy (without rod involvement) 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs797044676
rs797044676
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0268505
Disease:
Ocular albinism, type II 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs886039559
rs886039559
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0268505
Disease:
Ocular albinism, type II 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs782581701
rs782581701
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		A 0.700 CausalMutation CLINVAR Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 30576320 2018
dbSNP: rs1557106557
rs1557106557
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. 25307992 2015
dbSNP: rs141010716
rs141010716
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.700 GeneticVariation UNIPROT A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. 22194652 2011
dbSNP: rs201654095
rs201654095
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C0268505
Disease:
Ocular albinism, type II 		0.700 GeneticVariation UNIPROT A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. 22194652 2011
dbSNP: rs201654095
rs201654095
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.700 GeneticVariation UNIPROT A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. 22194652 2011
dbSNP: rs34162630
rs34162630
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
CUI: C1848172
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		0.700 GeneticVariation UNIPROT A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. 22194652 2011