Variant: rs119466002 

    present in Gene: BBS7
    present in Chromosome: 4
    Position on Chromosome: 121854790
    Alleles of this Variant: G/A

rs119466002 in BBS7 gene and Bardet-Biedl Syndrome PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.

PMID 12567324 2003 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

PMID 23572516 2013 BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.