Variant: rs121917777

present in Gene: ZDHHC24;BBS1 present in Chromosome: 11 Position on Chromosome: 66531692 Alleles of this Variant: G/A;T

rs121917777 in ZDHHC24;BBS1 gene and Bardet-Biedl Syndrome PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

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

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

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 21517826 2011 Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

PMID 16327777 2006 Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

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