Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865239
rs281865239
0.810 GeneticVariation BEFREE The one proband with compound heterozygous variants (p.S7N and p.R218H) exhibited typical BVMD phenotypes (pseudohypopyon stage and vitelliruptive stage in the right and left eyes, respectively). 26201355

2015

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557

2009

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 18766995

2008

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Bestrophin Cl- channels are highly permeable to HCO3-. 18400985

2008

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). 15176385

2004

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 14517959

2003

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Phenotype and genotype correlations in two best families. 13129869

2003

dbSNP: rs281865239
rs281865239
0.810 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: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Identification of a novel VMD2 mutation in Japanese patients with Best disease. 12187431

2002

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 11449320

2001

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 11241846

2001

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. 10682987

2000

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 10798642

2000

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT The mutation spectrum of the bestrophin protein--functional implications. 10394929

1999

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 10331951

1999

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 10453731

1999

dbSNP: rs281865239
rs281865239
0.810 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

dbSNP: rs281865239
rs281865239
0.810 GeneticVariation UNIPROT Identification of the gene responsible for Best macular dystrophy. 9662395

1998

dbSNP: rs281865239
rs281865239
A 0.810 CausalMutation CLINVAR