Variant: rs376894444 

    present in Gene: BBS1
    present in Chromosome: 11
    Position on Chromosome: 66515586
    Alleles of this Variant: G/A

rs376894444 in BBS1 gene and Bardet-Biedl syndrome 1 (disorder) PMID 12567324 2003 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

PMID 12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PMID 12524598 2003 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PMID 26261414 2015 Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

PMID 21520335 2011 U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

rs376894444 in BBS1 gene and Retinitis Pigmentosa PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.