Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.820 GeneticVariation BEFREE We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype. 26333019

2016

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.820 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.820 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.820 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.820 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.820 GeneticVariation BEFREE The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB. 26200502

2015

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
A 0.820 CausalMutation CLINVAR

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.820 GeneticVariation UNIPROT The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB. 26200502

2015

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.820 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

dbSNP: rs121918286
rs121918286
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.710 GeneticVariation BEFREE Lastly, we find that the ARB truncation mutants L174Qfs*57 and R200X can form oligomers with WT Best1, indicating that the first ∼174 amino acids of Best1 are sufficient for oligomerization to occur. 24560797

2014

dbSNP: rs121918286
rs121918286
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
T 0.710 CausalMutation CLINVAR

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
A 0.810 CausalMutation CLINVAR

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 GeneticVariation UNIPROT Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies. 21330666

2011

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 GeneticVariation BEFREE Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies. 21330666

2011

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 GeneticVariation UNIPROT Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. 26200502

2015

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. 26200502

2015

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011