Gene: BEST1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
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
BEST1 ; LOC107984334
0.820 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.820 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.820 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.820 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
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
BEST1 ; LOC107984334
A 0.820 CausalMutation CLINVAR

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

2011
dbSNP: rs121918286
rs121918286
BEST1 ; LOC107984334
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
BEST1 ; LOC107984334
T 0.710 CausalMutation CLINVAR

dbSNP: rs121918287
rs121918287
FTH1 ; BEST1 ; LOC107984334
A 0.810 CausalMutation CLINVAR

dbSNP: rs121918287
rs121918287
FTH1 ; BEST1 ; LOC107984334
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
FTH1 ; BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009
dbSNP: rs121918287
rs121918287
FTH1 ; BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008
dbSNP: rs121918287
rs121918287
FTH1 ; BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015
dbSNP: rs121918287
rs121918287
FTH1 ; BEST1 ; LOC107984334
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
FTH1 ; BEST1 ; LOC107984334
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
BEST1
0.800 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008
dbSNP: rs121918288
rs121918288
BEST1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121918288
rs121918288
BEST1
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
BEST1
0.800 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009
dbSNP: rs121918288
rs121918288
BEST1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012
dbSNP: rs121918288
rs121918288
BEST1
0.800 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015
dbSNP: rs121918288
rs121918288
BEST1
0.800 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011