Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR BBS mutations modify phenotypic expression of CEP290-related ciliopathies. 23943788

2014
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR Choroidal neovascularization in Bardet-Biedl syndrome. 23565731

2013
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. 22940089

2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970

2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442

2012
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079

2010
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602

2007
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.810 GeneticVariation BEFREE We screened these six Newfoundland families for mutations in BBS1 and found that affected individuals in five of them were homozygous for the same M390R mutation. 15517396

2005
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556

2003
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598

2003
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
G 0.810 CausalMutation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.810 GeneticVariation UNIPROT

dbSNP: rs376894444
rs376894444
BBS1
A 0.800 GeneticVariation CLINVAR Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 26261414

2015
dbSNP: rs376894444
rs376894444
BBS1
A 0.800 GeneticVariation CLINVAR Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 22773737

2012
dbSNP: rs376894444
rs376894444
BBS1
A 0.800 GeneticVariation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs376894444
rs376894444
BBS1
A 0.800 GeneticVariation CLINVAR U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. 21520335

2011
dbSNP: rs376894444
rs376894444
BBS1
0.800 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
dbSNP: rs376894444
rs376894444
BBS1
0.800 GeneticVariation UNIPROT Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
dbSNP: rs376894444
rs376894444
BBS1
A 0.800 GeneticVariation CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705

2010
dbSNP: rs376894444
rs376894444
BBS1
A 0.800 GeneticVariation CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035

2010
dbSNP: rs376894444
rs376894444
BBS1
0.800 GeneticVariation UNIPROT Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229

2005
dbSNP: rs376894444
rs376894444
BBS1
0.800 GeneticVariation UNIPROT Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324

2003
dbSNP: rs376894444
rs376894444
BBS1
0.800 GeneticVariation UNIPROT Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556

2003