Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853290
rs137853290
RLBP1
0.810 GeneticVariation BEFREE Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 11453974

2001
dbSNP: rs137853290
rs137853290
RLBP1
0.810 GeneticVariation UNIPROT Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 11453974

2001
dbSNP: rs137853290
rs137853290
RLBP1
0.810 GeneticVariation UNIPROT Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 10102299

1999
dbSNP: rs137853290
rs137853290
RLBP1
0.810 GeneticVariation UNIPROT Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 9326942

1997
dbSNP: rs137853290
rs137853290
RLBP1
T 0.810 CausalMutation CLINVAR

dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 28418496

2017
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. 28418496

2017
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). 25820994

2015
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). 25820994

2015
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels. 24603341

2014
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels. 24603341

2014
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. 22736946

2012
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. 22736946

2012
dbSNP: rs62638193
rs62638193
RDH5 ; BLOC1S1-RDH5
A 0.800 CausalMutation CLINVAR Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. 15302662

2004
dbSNP: rs62638193
rs62638193
RDH5 ; BLOC1S1-RDH5
A 0.800 CausalMutation CLINVAR A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. 15007239

2004
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Macular dystrophy in a Japanese family with fundus albipunctatus. 12788147

2003
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. 12967826

2003
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Macular dystrophy in a Japanese family with fundus albipunctatus. 12788147

2003
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. 12967826

2003
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. 11675386

2001
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. 11470705

2001
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. 11675386

2001
dbSNP: rs377029071
rs377029071
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. 11470705

2001
dbSNP: rs62638193
rs62638193
RDH5 ; BLOC1S1-RDH5
A 0.800 CausalMutation CLINVAR Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. 11675386

2001
dbSNP: rs111033593
rs111033593
RDH5 ; BLOC1S1-RDH5
0.800 GeneticVariation UNIPROT A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. 11078852

2000