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: rs28940570
rs28940570
BEST1 ; LOC107984334
T 0.810 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs28941469
rs28941469
BEST1 ; LOC107984334
0.810 GeneticVariation BEFREE The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy. 31201163

2019
dbSNP: rs28940273
rs28940273
BEST1 ; LOC107984334
0.810 GeneticVariation BEFREE However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB). 28831140

2017
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
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: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation BEFREE Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while their parents had clinical features of mild maculopathy. 21809908

2012
dbSNP: rs1800995
rs1800995
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012
dbSNP: rs28941469
rs28941469
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs28940273
rs28940273
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 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: rs28940570
rs28940570
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs28941469
rs28941469
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557

2009
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557

2009
dbSNP: rs28940273
rs28940273
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 Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557

2009
dbSNP: rs28940570
rs28940570
BEST1 ; LOC107984334
0.810 GeneticVariation BEFREE However, the p.Ala243Val seems to cause a mild and relatively invariable BVMD phenotype. 19357557

2009
dbSNP: rs28940570
rs28940570
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT However, the p.Ala243Val seems to cause a mild and relatively invariable BVMD phenotype. 19357557

2009
dbSNP: rs28941469
rs28941469
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557

2009
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Bestrophin Cl- channels are highly permeable to HCO3-. 18400985

2008
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 18766995

2008
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 18766995

2008