Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557

2009

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Bestrophin Cl- channels are highly permeable to HCO3-. 18400985

2008

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 18766995

2008

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). 15176385

2004

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 14517959

2003

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Phenotype and genotype correlations in two best families. 13129869

2003

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. 12324875

2002

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Identification of a novel VMD2 mutation in Japanese patients with Best disease. 12187431

2002

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 11449320

2001

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 11241846

2001

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 10798642

2000

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. 10682987

2000

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 10331951

1999

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT The mutation spectrum of the bestrophin protein--functional implications. 10394929

1999

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 10453731

1999

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Identification of the gene responsible for Best macular dystrophy. 9662395

1998

dbSNP: rs199529046
rs199529046
0.700 GeneticVariation UNIPROT Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 9700209

1998