Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs376894444
rs376894444
BBS1
0.800 GeneticVariation UNIPROT Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096

2003
dbSNP: rs376894444
rs376894444
BBS1
0.800 GeneticVariation UNIPROT Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598

2003
dbSNP: rs376894444
rs376894444
BBS1
0.800 GeneticVariation UNIPROT Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002