Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
C 0.810 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation BEFREE Four family members with the c.253T>C p.Y85H mutation in the BEST1 gene and BVMD in different stages also exhibited anterior segment abnormalities such as shallow anterior chambers (two cases), and reduced axial lengths in all cases. 21473666

2011
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557

2009
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 18766995

2008
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Bestrophin Cl- channels are highly permeable to HCO3-. 18400985

2008
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). 15176385

2004
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 14517959

2003
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Phenotype and genotype correlations in two best families. 13129869

2003
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Identification of a novel VMD2 mutation in Japanese patients with Best disease. 12187431

2002
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
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: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 11449320

2001
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 11241846

2001
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
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: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 10798642

2000
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 10331951

1999
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 10453731

1999
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT The mutation spectrum of the bestrophin protein--functional implications. 10394929

1999
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
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: rs28940274
rs28940274
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Identification of the gene responsible for Best macular dystrophy. 9662395

1998
dbSNP: rs28940274
rs28940274
BEST1 ; LOC107984334
C 0.810 CausalMutation CLINVAR